Note: Intro -- Contents -- Normal Growth in PKU Patients Under Low-Protein Diet in a Single-Center Cross-Sectional Study -- Abstract -- Introduction -- Material and Methods -- Patient Cohort -- Control Population -- Anthropometry -- Dietary Intake -- Statistical Analysis -- Results -- Study Cohort and Control Population -- Anthropometry Findings -- Statistical Analysis -- Discussion -- Take-Home Message -- Compliance with Ethics Guidelines -- References -- Serial Magnetic Resonance Imaging and 1H-Magnetic Resonance Spectroscopy in GABA Transaminase Deficiency: A Case Report -- Abstract -- Introduction -- Case Report -- Radiological Findings -- GABA in the Serum and Cerebrospinal Fluid -- Electroencephalography (EEG) -- Discussion -- Authors´ Contributions -- Corresponding Author -- Conflict of Interest -- Funding -- Compliance with Ethics Guideline -- Informed Consent -- References -- Metabolomics Profile in ABAT Deficiency Pre- and Post-treatment -- Abstract -- Introduction -- Methods -- Human Subjects -- Metabolomic Profiling -- Results -- Clinical Description -- Metabolic Testing -- Metabolomic Profiling -- Discussion -- Author Contributions -- Conflict of Interest -- References -- Cognitive and Behavioural Outcomes of Paediatric Liver Transplantation for Ornithine Transcarbamylase Deficiency -- Abstract -- Introduction -- Methods -- Participants -- Measures -- Memory -- Results -- Patients -- Cognitive Outcomes -- Discussion -- Conclusion -- Take-Home Message -- Contributions of the Authors -- Competing Interests -- Funding -- Ethics -- References -- Muscle Weakness, Cardiomyopathy, and L-2-Hydroxyglutaric Aciduria Associated with a Novel Recessive SLC25A4 Mutation -- Abstract -- Introduction -- Case History -- Material and Methods -- Autozygosity Mapping and Whole Exome Sequencing -- MtDNA Deletion Screening -- Biochemistry -- Results. , Mutation Analysis -- mtDNA Haplotype Analysis -- Enzyme Diagnostics -- Discussion -- Synopsis -- Compliance with Ethics Guidelines -- Ethics Approval -- Conflict of Interest -- Funding -- Authors´ Contributions -- References -- Pentosan Polysulfate Treatment of Mucopolysaccharidosis Type IIIA Mice -- Abstract -- Introduction -- Materials and Methods -- Experimental Animals -- PPS Administration -- Plasma Immunoassays -- Histology and Immunohistochemistry -- Neurobehavioral Evaluations -- Statistics -- Results -- Effects of PPS Treatment on Systemic Pathology and Inflammation in MPS IIIA Mice -- Effects of PPS Treatment on Neuropathological Markers in MPS IIIA Mice -- Effects of PPS Treatment on Behavioral Testing in the MPS IIIA Mice -- Discussion -- Synopsis of Article -- Conflict of Interest -- Animal Rights -- Contributions of Individual Authors -- References -- Serum Amino Acid Profiling in Citrin-Deficient Children Exhibiting Normal Liver Function During the Apparently Healthy Period -- Abstract -- Introduction -- Subjects and Methods -- Subjects and Sample Collection -- Serum Amino Acid Analyses -- Statistical Analyses -- Results -- Anthropometric and Basal Biochemical Data -- Amino Acids Related to Citrin and the Urea Cycle -- Glucogenic and Ketogenic Amino Acids -- Branched-Chain Amino Acids, Valine Intermediates, and β-Alanine -- Amino Acid Ratios -- Discussion -- The Name of the Corresponding Author -- A Competing Interest Statement -- Details of Funding -- Details of Ethics Approval -- Patient Consent Statement -- Documentation of Approval from the Institutional Committee for Care and Use of Laboratory Animals -- References -- Severe Leukoencephalopathy with Clinical Recovery Caused by Recessive BOLA3 Mutations -- Abstract -- Introduction -- Methods -- Patient -- Whole Genome Sequencing -- Enzyme Assays -- Immunoblotting -- Results. , Clinical Details -- MRI -- Biochemical Studies and Enzymology -- Genetic Results -- Functional Studies -- Discussion -- Conclusion -- Synopsis -- Conflict of Interest -- Informed Consent -- Author Contributions -- Details of Funding -- Corresponding Author -- References -- Neonatal Onset Interstitial Lung Disease as a Primary Presenting Manifestation of Mucopolysaccharidosis Type I -- Abstract -- Introduction -- Case Reports -- Case 1 -- Case 2 -- Discussion -- Synopsis -- Details of the Contributions of Individual Authors -- Compliance With Ethics and Guidelines -- Conflict of Interest -- Prior Abstract Publication/Presentation -- References -- A Middle Eastern Founder Mutation Expands the Genotypic and Phenotypic Spectrum of Mitochondrial MICU1 Deficiency: A Report of... -- Abstract -- Introduction -- Clinical Description -- Case Report (Family 2) -- Investigations -- Methods and Subjects -- Clinical Findings -- Laboratory Findings -- Discussion -- Conclusions -- References -- Disruption of the Responsible Gene in a Phosphoglucomutase 1 Deficiency Patient by Homozygous Chromosomal Inversion -- Abstract -- Introduction -- Materials and Methods -- Cytogenetic Analysis -- Sequence Analysis -- Patient -- Results -- Discussion -- Synopsis Sentence -- Conflict of Interest -- Informed Consent -- Author Contributions -- References -- Evaluation of Disease Lesions in the Developing Canine MPS IIIA Brain -- Abstract -- Highlights -- Introduction -- Methods -- Animals -- Determination of Total Heparan Sulphate -- Quantification of Lipids -- Histochemistry and Immunohistochemistry -- Statistical Analysis -- Results -- Quantification of Primary Heparan Sulphate Accumulation -- Quantification of Secondary Lipid Accumulation -- Gangliosides -- Other Lipids -- LIMP-2 Immunoreactivity -- Doublecortin Immunoreactivity -- NeuN Immunoreactivity -- Neuroinflammation. , Discussion -- Synopsis -- Contributions of Individual Authors -- Corresponding Author -- Competing Interest Statement -- Funding -- Ethics Approval -- Documentation of Approval from the Institutional Committee for Care and Use of Laboratory Animals (or Comparable Committee) -- References -- Extrapolation of Variant Phase in Mitochondrial Short-Chain Enoyl-CoA Hydratase (ECHS1) Deficiency -- Abstract -- Introduction -- Materials and Methods -- Results -- Clinical Phenotype -- Molecular Genetic Analysis -- Enzyme Assay -- Discussion -- Author Contributions -- Compliance with Ethics Guidelines -- Take-Home Message -- References -- RFT1-CDG: Absence of Epilepsy and Deafness in Two Patients with Novel Pathogenic Variants -- Abstract -- Introduction -- Patients -- Patient 1 -- Patient 2 -- Discussion -- Contributors -- Competing Interests -- Synopsys -- Compliance with Ethics Guidelines -- Conflict of Interest -- Informed Consent -- Animal Rights -- References -- Short-Term Administration of Mycophenolate Is Well-Tolerated in CLN3 Disease (Juvenile Neuronal Ceroid Lipofuscinosis) -- Abstract -- Introduction -- Methods -- Drug Dosing -- Eligibility, Recruitment, Infrastructure, and Study Conduct -- Outcome Measures -- Autoantibody ELISAs -- Sample Size -- Statistical Analysis -- Ethics Approval and Safety Monitoring -- Results -- Discussion -- Synopsis -- Corresponding Author -- Compliance with Ethics Guidelines -- Conflict of Interest -- Funding -- Informed Consent -- Contributions of Individual Authors -- References.

Note: Intro -- Contents -- Friedreich Ataxia in Classical Galactosaemia -- Abstract -- Introduction -- Methods -- Results -- Discussion -- Conclusion -- Take-Home Message -- Compliance with Ethics Guidelines -- Conflicts of Interest -- Informed Consent -- Contributions of Individual Authors -- References -- Phenotypic Expansion of Congenital Disorder of Glycosylation Due to SRD5A3 Null Mutation -- Abstract -- Introduction -- Clinical Report -- Mutation Analysis -- Discussion -- Take-Home Message -- Details of the Contributions of Individual Authors -- Conflict of Interest -- Informed Consent -- References -- Periventricular Calcification, Abnormal Pterins and Dry Thickened Skin: Expanding the Clinical Spectrum of RMND1? -- Abstract -- Introduction -- Methods -- Sample Collection -- Whole-Exome Sequencing -- Respiratory Chain Complex Analysis -- Case Reports -- Patient II:1 -- Investigations -- Patient II:2 -- Results -- Exome Sequencing -- Respiratory Chain Complex and RMND1 Protein Analyses -- Discussion -- Financial Support -- Synopsis -- Compliance with Ethics Guidelines -- Conflict of Interest -- Informed Consent -- Author Contributions -- References -- TMEM165 Deficiency: Postnatal Changes in Glycosylation -- Abstract -- Introduction -- Material and Methods -- Mutation Analysis -- Isoelectric Focusing (IEF) -- Immunoprecipitation and SDS-PAGE -- Nano-electrospray Ionization Time-of-Flight Mass Spectrometry (nanoESI-TOF MS) -- MALDI Time-of-Flight Mass Spectrometry (MALDI-TOF MS) -- 2D Gel Electrophoresis -- Results -- Clinical Data -- Mutation Analysis of TMEM165 -- IEF and SDS-PAGE -- Mass Spectrometry -- 2D Gel Electrophoresis -- Discussion -- Take-Home Message -- Compliance with Ethic Guidelines -- Conflict of Interest -- Informed Consent -- Details of the Contributions of Individual Authors -- References. , Transaldolase Deficiency: A New Case Expands the Phenotypic Spectrum -- Abstract -- Introduction -- Clinical Report -- Materials and Methods -- Array CGH -- Urine Sample Preparation -- 1H-NMR Spectroscopy -- TALDO1 Sequencing -- Discussion -- Synopsis -- Compliance with Ethical Guidelines -- Conflict of Interest -- Informed Consent -- References -- Pearson Syndrome: A Retrospective Cohort Study from the Marrow Failure Study Group of A.I.E.O.P. (Associazione Italiana Emato-... -- Abstract -- Introduction -- Patients and Methods -- Results -- Clinical Phenotype -- Biochemical Profile -- Treatments -- Survival -- Discussion -- Conclusion -- Take-Home Message -- Funding Source -- Financial Disclosure -- Compliance with Ethical Guidelines -- Conflict of Interest -- Contributor´s Statements -- References -- Bioimpedance Analysis as a Method to Evaluate the Proportion of Fatty and Muscle Tissues in Progressive Myopathy in Pompe Dise... -- Abstract -- Introduction -- Material and Methods -- Study Subjects -- Study Design -- BIA Analysis -- MRI Analysis -- Ethical Consideration -- Results -- BIA -- MRI -- BIA vs. MRI -- Discussion -- Conclusions -- Compliance with Ethics Guidelines -- Conflict of Interest -- References -- Infantile Refsum Disease: Influence of Dietary Treatment on Plasma Phytanic Acid Levels -- Abstract -- Introduction -- Methods -- Results -- Discussion -- Synopsis -- Compliance with Ethics Guidelines -- Conflict of Interest -- Informed Consent -- Details of the Contributions of Individual Authors -- References -- Mucopolysaccharidosis (MPS) Physical Symptom Score: Development, Reliability, and Validity -- Abstract -- Introduction -- Methods -- Subjects -- Procedures -- Development of the PSS Scale -- Reliability -- Validation Measures -- Statistical Analysis -- Results -- Discussion -- Synopsis of the Article. , Compliance with Ethics Guidelines -- Contributions of Individual Authors -- Corresponding and Responsible Author -- Conflict of Interest -- Informed Consent -- References -- Energy Expenditure in Chilean Children with Maple Syrup Urine Disease (MSUD) -- Abstract -- Introduction -- Methods -- Results -- Discussion -- Conclusion -- Funding -- Compliance with Ethics Guidelines -- Conflict of Interest -- Informed Consent -- Details of the Contributions of Individual Authors -- References -- News on Clinical Details and Treatment in PGM1-CDG -- Abstract -- Introduction -- Materials and Methods -- Patients -- IEF (Isoelectric Focusing) and SDS-PAGE (Sodium Dodecyl Sulfate Polyacrylamide Gel Electrophoresis) -- HPLC (High-Performance Liquid Chromatography) -- Cell Culture -- Cell Isolation -- Gene and Protein Analysis -- Functional Tests: Glucagon Test and Galactose Kinetics -- Results -- Analysis of Serum TF Glycosylation -- Mutation analysis -- Glucagon Test and Galactose Kinetics -- Discussion -- Compliance with Ethics Guidelines -- Author Contributions -- Conflict of Interest -- Informed Consent -- References -- Safety and Efficacy of Chronic Extended Release Cornstarch Therapy for Glycogen Storage Disease Type I -- Abstract -- Introduction -- Subjects and Methods -- Subjects -- Study Design -- Statistical Analysis -- Results -- Overnight Challenge -- Long-Term Safety and Efficacy Follow-Up -- Discussion -- Compliance with Ethics Guidelines -- Conflict of Interest -- Informed Consent -- Details of the Contributions of Individual Authors -- References -- Normal Neurodevelopmental Outcomes in PNPO Deficiency: A Case Series and Literature Review -- Abstract -- Introduction -- Case Reports -- Case 1 -- Case 2 -- Case 3 -- Case 4 -- Discussion -- Compliance with Ethics Guidelines -- Conflict of Interest -- Informed Consent -- Author Contributions. , References -- Screening for Attenuated Forms of Mucopolysaccharidoses in Patients with Osteoarticular Problems of Unknown Etiology -- Abstract -- Introduction -- Materials and Methods -- Results and Discussion -- Conclusion -- Synopsis -- Contributions of the Individual Authors -- Compliance with Ethics Guidelines -- Competing Interest Statement -- Details of Funding for All Authors -- Details of Ethics Approval -- References -- Causes of Death in Adults with Mitochondrial Disease -- Abstract -- Introduction -- Mitochondrial Function and Mitochondrial Disease -- Mortality in Mitochondrial Disease -- Methods -- Results -- MELAS -- Chronic Progressive External Ophthalmoplegia (CPEO) -- Kearns-Sayre Syndrome -- MERRF -- Heterogeneous Phenotypes -- Discussion -- Conclusion and Recommendations -- Take-Home Messages -- Compliance with Ethics Guideline -- Conflict of Interest -- Contributions of Individual Authors -- Human and Animal Rights and Informed Consent -- References.

Note: Intro -- Contents -- A Homozygous Splice Site Mutation in SLC25A42, Encoding the Mitochondrial Transporter of Coenzyme A, Causes Metabolic Crises a... -- Abstract -- Introduction -- Subjects and Methods -- Subjects -- Genetic Studies -- RNA Sequencing and RT-PCR -- Measure of Mitochondrial Content of Coenzyme A -- Results -- Identification of Rare Variants in SLC25A42 -- The c.380+2T> -- A Variant Abolishes the Canonical Splicing of SLC25A42 -- Loss of SLC25A42 Is Associated with Reduced Amounts of Coenzyme A in Fibroblasts -- Discussion -- Synopsis -- Details of the Contributions of Individual Authors -- Compliance with Ethics Guidelines -- Conflict of Interest -- Details of Ethics Approval -- A Patient Consent Statement -- References -- Apparent Acetaminophen Toxicity in a Patient with Transaldolase Deficiency -- Abstract -- Introduction -- Materials and Methods -- High-Throughput Sequencing -- Results -- Discussion -- Conclusion -- Synopsis -- Corresponding Author -- Guarantor -- Details of Funding -- Compliance with Ethics Guidelines -- Conflict of Interest Statements -- Informed Consent -- Institutional Committee for Care and Use of Laboratory Animals -- Details of the Contributions of Individual Authors -- References -- Sialuria: Ninth Patient Described Has a Novel Mutation in GNE -- Abstract -- Introduction -- Materials and Methods -- The Case -- Discussion -- Take-Home Message -- Contributions of the Individual Authors -- Corresponding Author -- References -- Stability of the ABCD1 Protein with a Missense Mutation: A Novel Approach to Finding Therapeutic Compounds for X-Linked Adreno... -- Abstract -- Introduction -- Materials and Methods -- Materials -- Plasmid Construction -- Cell Culture and Stable Transfection -- Fluorescence-Based Assay Method for the Screening of Chemical Libraries -- Immunofluorescence Analysis -- Other Methods. , Results -- Stability of Missense Mutant ABCD1 Proteins in X-ALD Fibroblasts -- Stability of the Mutant ABCD1 Proteins Expressed in CHO Cells -- Screening Method Using CHO/mutABCD1-GFP -- Screening of Existing Drugs -- Discussion -- Take-Home Message -- Conflict of Interest -- Informed Consent -- Animal Rights -- Author Contributions -- References -- Psychosocial Functioning in Parents of MPS III Patients -- Abstract -- Introduction -- Methods -- Participants and Procedures -- Measures -- Sociodemographic Characteristics -- Anxiety and Depression -- Parental Distress -- Posttraumatic Stress -- Statistical Analyses -- Results -- Sociodemographic Characteristics -- Anxiety and Depression -- Parental Distress -- Posttraumatic Stress -- Discussion -- Synopsis -- Details of Author Contributions -- Corresponding Author -- Competing Interest Statement -- Funding -- Ethics Approval -- Patient Consent -- Institutional Committee for Care and Use of Laboratory Animals -- References -- The Second Case of Saposin A Deficiency and Altered Autophagy -- Abstract -- Introduction -- Material and Methods -- Case Report -- Biochemical Studies -- Enzyme Assay -- Cell Culture -- Glycosphingolipid (GSL) Extraction and Thin Layer Chromatography -- Immunofluorescence -- Statistical Analysis -- Results -- Altered Ganglioside Pattern in Saposin A-Deficient Fibroblasts -- Increased Numbers of Lysosomes in Saposin A-Deficient Fibroblasts -- Increased Autophagosome Numbers in Saposin A-Deficient Fibroblast -- Discussion -- Conflict of Interest -- Financial Disclosure -- Ethics -- References -- An Electronic Questionnaire for Liver Assessment in Congenital Disorders of Glycosylation (LeQCDG): A Patient-Centered Study -- Abstract -- Introduction -- Congenital Disorders of Glycosylation -- Quality of Life in Congenital Disorders of Glycosylation -- Methods -- Literature Search. , Building and Testing the LeQCDG -- LeQCDG Recruitment, Dissemination and Analysis -- Data Analysis -- Results -- Participants -- Liver Disease in CDG -- Liver Symptoms in CDG -- Impact of Liver Involvement -- Awareness and Information About Liver Involvement in CDG: All Participants -- Discussion -- Principal Results -- Limitations of This Work -- Comparison Between LeQCDG and Literature Data -- CDG Electronic Questionnaires as an Additional Source of Patient Information -- Conclusions -- Note -- Synopsis -- Compliance with Ethics Guidelines -- Conflict of Interests -- Details of the Contributions of Individual Authors -- Ethical Guidelines, Human and Animal Rights and Consents -- Funding -- References -- Acute Hepatic Porphyrias in Colombia: An Analysis of 101 Patients -- Abstract -- Introduction -- Methods -- Results -- Discussion -- Conclusions -- Compliance with Ethics Guidelines -- Conflict of Interest -- Informed Consent -- Details of the Contributions of Individual Authors -- Funding -- References -- Cobalamin D Deficiency Identified Through Newborn Screening -- Abstract -- Introduction -- Case Report -- Developmental History -- Genetic Tests -- Imaging Studies -- Discussion -- Conclusion -- One Sentence Summary -- Details of Contributions of Authors -- Compliance with Ethics Guidelines -- Conflict of Interest -- Informed Consent -- References -- Lathosterolosis: A Relatively Mild Case with Cataracts and Learning Difficulties -- Abstract -- Introduction -- Case Report -- Discussion -- Contributions of Individual Authors -- Competing Interest Statement -- Consent -- References -- DPAGT1 Deficiency with Encephalopathy (DPAGT1-CDG): Clinical and Genetic Description of 11 New Patients -- Abstract -- Background -- Methods -- Genetic Characterization -- Results -- Clinical Characterization -- Mutational Spectrum -- Discussion -- Synopsis. , Details of the Contributions of Individual Authors -- Competing Interest Statement -- Compliance with Ethic Guidelines -- Patient Consent Statement -- References -- Enzyme Replacement Therapy During Pregnancy in Fabry Patients -- Abstract -- Introduction -- Case -- Clinical Findings -- Material and Methods -- Placenta -- Review of Literature -- Results -- Discussion -- Contribution of Individual Authors -- Take-Home Message -- Conflicts of Interest -- Details of Ethics Approval and Patient Statement of Consent -- References -- Hyperornithinemia, Hyperammonemia, and Homocitrullinuria Syndrome Causing Severe Neonatal Hyperammonemia -- Abstract -- Introduction -- Clinical Case Report -- Methods -- Discussion -- Details of Funding -- Details of Ethics Approval -- Conflicts of Interest -- Synopsis -- Compliance with Ethics Guidelines -- Conflict of Interest -- References -- Screening for Niemann-Pick Type C Disease in a Memory Clinic Cohort -- Abstract -- Introduction -- Methods -- Results -- Discussion -- Synopsis -- Compliance with Ethics Guidelines -- Conflicts of Interest -- Funding -- Informed Consent -- Author Contributions -- References -- Reversible Cerebral White Matter Abnormalities in Homocystinuria -- Abstract -- Introduction -- Case -- Discussion -- Synopsis -- Conflict of Interest -- Compliance with Ethics Guidelines -- References.

Note: Intro -- Contents -- Arginine Functionally Improves Clinically Relevant Human Galactose-1-Phosphate Uridylyltransferase (GALT) Variants Expressed i... -- Abstract -- Introduction -- Materials and Methods -- Cloning and Mutagenesis -- Cell Cultures and Growth Media -- Results and Discussion -- Effect of Carbon Sources upon the Growth of Non-transformed and Wild-Type hGALT-Transformed E. coli DeltagalT -- Galactose Sensitivity of Bacteria Expressing Different hGALT Variants -- Arginine Rescue of the hGALT Variants -- Conclusion -- Synopsis -- Compliance with Ethics Guidelines -- Conflict of Interest -- Informed Consent -- Animal Rights -- Contributions -- References -- Effect and Tolerability of Agalsidase Alfa in Patients with Fabry Disease Who Were Treatment Naïve or Formerly Treated with Ag... -- Abstract -- Introduction -- Patients and Methods -- Treatment Protocol Design and Data Collection -- Clinical and Pharmacodynamic Parameters -- Data and Statistical Analyses -- Results -- Safety and Tolerability -- Immunogenicity and Other Safety Parameters -- Renal Function and Cardiac Structure/Function -- Plasma and Urine Biomarkers -- Discussion -- Synopsis -- Compliance with Ethics Guidelines -- Conflicts of Interest -- Patient Consent Statement -- Details of the Contributions of Individual Authors -- References -- Niemann-Pick Type C-2 Disease: Identification by Analysis of Plasma Cholestane-3beta,5α,6beta-Triol and Further Insight into t... -- Abstract -- Introduction -- Materials and Methods -- LC-MS/MS -- GC/MS -- Mutation Analysis -- Filipin Staining -- Chitotriosidase Activity -- Results -- Case Reports -- Patient 1 -- Patient 2 -- Patient 3 -- Discussion -- Compliance with Ethics Guidelines -- Conflict of Interest -- Informed Consent -- Details of the Contributions of Individual Authors -- References. , The Modulatory Effects of the Polymorphisms in GLA 5-Untranslated Region Upon Gene Expression Are Cell-Type Specific -- Abstract -- Introduction -- Materials and Methods -- Synopsis of the Laboratory Protocol -- Statistical Analyses -- Results -- Discussion -- Synopsis -- Compliance with Ethics Guidelines -- Conflict of Interest Declaration -- References -- The Kuvan Adult Maternal Paediatric European Registry (KAMPER) Multinational Observational Study: Baseline and 1-Year Data in ... -- Abstract -- Introduction -- Methods -- Study Design -- Study Population -- Study Variables -- Assessments -- Study Size -- Minimizing Bias -- Statistical Analyses -- Results -- Patients -- BH4 Responsiveness -- Safety -- Sapropterin Treatment -- Blood Phenylalanine Concentrations at Baseline, 6 Months and 12 Months -- Natural Protein and Actual Phenylalanine Intake at Baseline, 6 Months and 12 Months -- Growth -- Discussion -- Synopsis -- Compliance with Ethics Guidelines -- Conflicts of Interest -- Informed Consent -- Contributions of Individual Authors -- References -- Postmortem Findings and Clinical Correlates in Individuals with Infantile-Onset Pompe Disease -- Abstract -- Introduction -- Materials and Methods -- Results -- Patient 1 -- Postmortem Examination -- Smooth Muscle -- Cardiac Muscle -- Nervous System -- Eyes -- Other Findings -- Patient 2 -- Postmortem Examination -- Smooth Muscle -- Nervous System -- Eyes -- Patient 3 -- Postmortem Examination -- Smooth Muscle -- Cardiac Muscle -- Nervous System -- Other Findings -- Discussion -- Conclusion -- Synopsis -- Compliance with Ethics Guidelines -- Conflict of Interest -- Informed Consent -- Contributions by Individual Authors -- References -- Clinical Severity of PGK1 Deficiency Due To a Novel p.E120K Substitution Is Exacerbated by Co-inheritance of a Subclinical Tra... -- Abstract -- Introduction. , Materials and Methods -- Samples, Cytogenetic Analysis, and Lymphoblastoid Cell Lines (LCLs) -- DNA extraction, flow sorting of derivative (der) chromosomes, array painting, amplification of the junction fragments, and SNP... -- Whole-Exome Sequencing (WES) -- RNA Extraction and Expression Studies -- Construction of the Expression Vector Coding for PGK1 p.E120K Variant -- Expression, Purification, and Characterization of the PGK1-E120K Variant -- SDS-PAGE and Immunodetection -- Results -- Clinical Report -- Cytogenetic Analysis -- Breakpoints and Candidate Genes -- Exclusion of Genomic Imbalance and Identification of the Additional Genetic Defect -- Functional Characterization of the PGK1 p.E120K Variant -- Gene Expression Studies -- SDS-PAGE Western Blot Analysis -- Discussion -- Synopsis -- Compliance with Ethics Guidelines -- Conflict of Interest -- Informed Consent -- Details of the Contributions of Individual Authors -- References -- Abnormal Newborn Screening in a Healthy Infant of a Mother with Undiagnosed Medium-Chain Acyl-CoA Dehydrogenase Deficiency -- Abstract -- Introduction -- Case Report -- Discussion and Conclusions -- Synopsis -- Conflict of Interest -- Compliance with Ethics Guidelines -- Author Contribution -- References -- Cobalamin C Disease Missed by Newborn Screening in a Patient with Low Carnitine Level -- Abstract -- Introduction -- Clinical Report -- Discussion -- Synopsis -- Compliance with Ethics Guidelines -- Conflict of Interest -- Contributions -- References -- Adverse Effects of Genistein in a Mucopolysaccharidosis Type I Mouse Model -- Abstract -- Introduction -- Materials and Methods -- Animals -- Tissue Processing -- GAG Analysis -- Genistein Measurement -- Morphology of Testes -- Statistical Analysis -- Results -- Genistein Decreases GAG Levels in the Liver but Not in the Bone or Plasma. , Genistein Was Present in the Plasma but Undetectable in the Bone -- Genistein Causes Decreased Skeletal Growth and Scrotal Hernia/Hydrocele in MPS I Mice -- Discussion -- Take-Home Message -- Compliance with Ethics Guidelines -- Conflicts of Interest -- Informed Consent -- Animal Rights -- Contributions of the Individual Authors -- References -- Expanding the Clinical and Magnetic Resonance Spectrum of Leukoencephalopathy with Thalamus and Brainstem Involvement and High... -- Abstract -- Introduction -- Case Report -- Discussion -- Take-Home Message -- Compliance with Ethics Guidelines -- Informed Consent -- Author Contributions -- References -- Mitochondrial DNA Depletion and Deletions in Paediatric Patients with Neuromuscular Diseases: Novel Phenotypes -- Abstract -- Introduction -- Subjects and Methods -- Patients and Controls -- DNA Extraction from Muscle Biopsy Samples and Fibroblasts -- Real-Time Quantitative PCR of Muscle DNA Samples -- Detection of Mitochondrial DNA Deletions in Muscle DNA Samples -- Molecular Genetic Studies on Patients with Mitochondrial DNA Depletion or Deletions -- Results -- Characteristics of Patient and Control Cohorts -- Molecular Studies and Clinical Features of the Patients -- Discussion -- Synopsis -- Compliance with Ethics Guidelines -- Conflict of Interest -- Informed Consent -- Authors´ Contributions -- References -- Medium-Chain Acyl-CoA Dehydrogenase Deficiency: Evaluation of Genotype-Phenotype Correlation in Patients Detected by Newborn S... -- Abstract -- Introduction -- Methods -- Patients -- Genotype -- Biochemical Parameters -- Clinical Parameters -- Statistical Analysis -- Results -- Genotypes -- Biochemical Parameters -- Time of Sampling -- Clinical Outcome -- Discussion -- Biochemical Phenotype -- Time of Sampling -- Clinical Phenotype -- Conclusion -- Take-Home Message. , Compliance with Ethics Guidelines -- Conflict of Interest -- Authors´ Disclosures -- Conflict of Interest -- Informed Consent -- Authors´ Contributions -- Funding -- References -- Rhabdomyolysis-Associated Mutations in Human LPIN1 Lead to Loss of Phosphatidic Acid Phosphohydrolase Activity -- Abstract -- Introduction -- Materials and Methods -- Generation and Overexpression of Mutant Alleles -- Immunohistochemistry/Fluorescent Staining -- Protein and RNA Analysis -- Protein Half-Life -- Transcriptional Regulation -- PAP Activity -- Kinetic Analysis -- Statistical analysis -- Results -- Patient with Novel c.1904T> -- C (p.Leu635Pro) Mutation -- LPIN1 Exon Deletion Impairs Expression of the Lipin 1 Protein -- Single Amino Acid Substitutions in Lipin 1 -- Analysis of the Subcellular Localization and Transcriptional Regulatory Function of Lipin 1 Mutant Proteins -- PAP Activity of Lipin 1 Mutant Proteins -- Discussion -- One Sentence -- Compliance with Ethics Guidelines -- Conflict of Interest -- Informed Consent -- Author Contributions -- References -- Dup-24bp in the CHIT1 Gene in Six Mexican Amerindian Populations -- Abstract -- Introduction -- Material and Methods -- Statistical Analysis -- Results -- Discussion -- Compliance with Ethics Guidelines -- Conflicts of Interest -- Originality -- Contribution of the Authors -- Informed Consent -- References.

Note: Intro -- Contents -- Molecular Analysis of Turkish Maroteaux-Lamy Patients and Identification of One Novel Mutation in the Arylsulfatase B (ARSB) G... -- Abstract -- Introduction -- Materials and Methods -- Patients -- ARSB Mutation Analysis -- Sequence Variations Nomenclature -- Analysis of the New Missense Sequence Variation -- Results -- Genotype-Phenotype Correlation -- Family Studies -- Discussion -- One-Sentence Take-Home Message -- Details of the Contributions of Individual Authors -- Name of One Author Who Serves as Guarantor -- Details of Funding -- Details of Ethics Approval -- A Patient Consent Statement -- Conflict of Interest -- References -- Danon Disease Due to a Novel LAMP2 Microduplication -- Abstract -- Introduction -- Methods -- Results -- Discussion -- Acknowledgments -- Synopsis -- Compliance with Ethics Guidelines -- Author Contributions -- References -- Secondary Mitochondrial Respiratory Chain Defect Can Delay Accurate PFIC2 Diagnosis -- Abstract -- Introduction -- Case Reports -- Discussion -- One-Sentence Take-Home Message -- Contribution of Individual Authors -- References -- Newborn Screening for Hunter Disease: A Small-Scale Feasibility Study -- Abstract -- Introduction -- Materials and Methods -- DBS Samples -- Enzyme Assay -- Results and Discussion -- Conclusion -- Conflict of Interest -- Informed Consent -- Details of the Contributions of Individual Authors -- References -- Abnormalities in Glycogen Metabolism in a Patient with Alpers´ Syndrome Presenting with Hypoglycemia -- Abstract -- Introduction -- Case Report -- Discussion -- Competing Interest -- Synopsis -- Compliance with Ethics Guidelines -- Conflict of Interest -- Informed Consent -- Animal Rights -- Contributions of Individual Authors -- References -- Assessment of Basal Metabolic Rate and Nutritional Status in Patients with Gaucher Disease Type III. , Abstract -- Introduction -- Methods -- Results -- Basal Metabolic Rate -- Nutritional Status -- Discussion -- Conclusion -- Summary -- References -- Mutations in the Complex III Assembly Factor Tetratricopeptide 19 Gene TTC19 Are a Rare Cause of Leigh Syndrome -- Abstract -- Introduction -- Conclusions -- Compliance with Ethics Guidelines -- Informed Consent -- References -- Quality of Life in Adult Patients with Glycogen Storage Disease Type I: Results of a Multicenter Italian Study -- Abstract -- Introduction -- Methods -- Statistical Analysis -- Results -- Discussion -- Conclusions -- Compliance with Ethics Guidelines -- References -- The Molecular Bases of Phenylketonuria (PKU) in New South Wales, Australia: Mutation Profile and Correlation with Tetrahydrobi... -- Abstract -- Introduction -- Materials and Methods -- Results -- Discussion -- Conflict of Interest -- Synopsis -- Compliance with Ethics Guidelines -- Details of Contributions of Individual Authors -- References -- Extraosseous Extension Caused by Epidural Hematoma in Gaucher Disease Mimicking Malignant Bone Tumor -- Abstract -- Introduction -- Case Report -- Discussion -- Conflict of Interest -- Informed Consent -- Contributions of Individual Authors -- References -- Thirteen Patients with MAT1A Mutations Detected Through Newborn Screening: 13 Years´ Experience -- Abstract -- Introduction -- Patients and Methods -- Results -- Discussion -- References -- AGC1 Deficiency Causes Infantile Epilepsy, Abnormal Myelination, and Reduced N-Acetylaspartate -- Abstract -- Introduction -- Methods -- Results -- Discussion -- One Sentence Synopsis -- Compliance with Ethics Guidelines -- References -- Mutational Spectrum of the CTNS Gene in Egyptian Patients with Nephropathic Cystinosis -- Abstract -- Introduction -- Patients and Methods -- Patients -- Methods -- Results -- Discussion -- Synopsis. , Compliance with Ethics Guidelines -- Conflict of Interest -- Informed Consent -- Details of the Contributions of Individual Authors -- References -- Enzyme Replacement Therapy in Mucopolysaccharidosis II Patients Under 1 Year of Age -- Abstract -- Introduction -- Case 1 -- Case 2 -- Case 3 -- Case 4 -- Case 5 -- Case 6 -- Case 7 -- Case 8 -- Discussion -- Synopsis -- Compliance with Ethics Guidelines -- Individual Contributions -- Financial Disclosure -- Conflict of Interest Statements -- Informed Consent for Identifying Information -- References -- Fructose-1,6-Bisphosphatase Deficiency: A Case of a Successful Pregnancy by Closely Monitoring Metabolic Control -- Abstract -- Introduction -- Case Report -- Discussion -- Synopsis -- Conflict of Interest -- Informed Consent -- Animal Rights -- Details of the Contributions of Individual Authors -- References -- Erratum to: AGC1 Deficiency Causes Infantile Epilepsy, Abnormal Myelination, and Reduced N-Acetylaspartate.

Note: Intro -- Contents -- Favourable Outcome in Two Pregnancies in a Patient with 3-Hydroxy-3-Methylglutaryl-CoA Lyase Deficiency -- Abstract -- Introduction -- Case Report -- Discussion -- Take-Home-Message -- Conflict of Interest -- Informed Consent -- References -- Lysosomal Acid Lipase Deficiency in 23 Spanish Patients: High Frequency of the Novel c.966+2T> -- G Mutation in Wolman Disease -- Abstract -- Introduction -- Materials and Methods -- Results -- Discussion -- The Spanish LAL Deficiency Working Group Includes All Physicians Who Referred Patients´ Samples for This Study -- Take-Home Message -- Compliance with Ethics Guidelines -- Author Contributions -- Corresponding Author -- Competing Interest Statement -- Details of Funding -- Informed Consent -- References -- Guanidinoacetate Methyltransferase Activity in Lymphocytes, for a Fast Diagnosis -- Abstract -- Introduction -- Materials and Methods -- Chemicals and Reagents -- Sample Collection -- Sample Preparation -- Liquid Chromatography -- Mass Spectrometry -- Performance Characteristics -- Statistical Analysis -- Results -- Discussion -- Future Perspectives -- Conclusion -- Synopsis -- Compliance with Ethics Guidelines -- Author Contribution -- References -- Galactose Epimerase Deficiency: Expanding the Phenotype -- Abstract -- Introduction -- Patient Reports -- Patient 1 (Fig. 1) -- Patient 2 (Fig. 2) -- Discussion -- Take Home Message -- Compliance with Ethics Guidelines -- Conflict of Interest -- Informed Consent -- Animal Rights -- Details of the Contributions of Individual Authors -- References -- Development and Psychometric Evaluation of the MetabQoL 1.0: A Quality of Life Questionnaire for Paediatric Patients with Into... -- Abstract -- Introduction -- Methods -- Subject Recruitment -- Materials -- MetabQoL 1.0 -- PedsQL and DISABKIDS -- Cognitive Debriefing. , Psychometric Evaluation -- Results -- Sample Characteristics -- Cognitive Debriefing Results -- Psychometric Evaluation Results -- Item Selection -- Reliability -- Validity -- Discussion -- Conclusion -- Intellectual Property and Conditions of Use -- One Sentence Take-Home Message -- Details of the Contributions of Individual Authors -- Conflict of Interest -- References -- Widening the Heterogeneity of Leigh Syndrome: Clinical, Biochemical, and Neuroradiologic Features in a Patient Harboring a NDU... -- Abstract -- Introduction -- Case Report: Biochemical and Molecular Analyses -- Case Report -- Biochemical and Molecular Analyses -- Discussion -- Short Running Title (Synopsis) -- Authors Contribution -- Conflict of Interest -- Details of Funding -- Details of Ethical Approval -- Informed Consent -- References -- Normal Neurological Development During Infancy Despite Massive Hyperammonemia in Early Treated NAGS Deficiency -- Abstract -- Case Report -- Discussion -- Hyperammonemia -- N-Acetyl Glutamate Synthase (NAGS) Deficiency -- Clinical Significance -- Compliance with Ethics Guidelines -- Conflict of Interest -- Informed Consent -- References -- Dihydropyrimidine Dehydrogenase Deficiency: Metabolic Disease or Biochemical Phenotype? -- Abstract -- Introduction -- Case Report -- Discussion -- Compliance with Ethical Guidelines -- Conflict of Interest -- Details of the Contributions of Individual Authors -- References -- Potential Misdiagnosis of Hyperhomocysteinemia due to Cystathionine Beta-Synthase Deficiency During Pregnancy -- Abstract -- Introduction -- Methods -- Patients -- Metabolite Studies -- Results -- Case Reports -- Patient 1 -- Patient 2 -- Metabolite Ratios -- Discussion -- Conclusions -- Take Home Message -- Contributions of Authors -- Guarantor for Chapter -- Conflict of Interest -- Funding for Research -- Informed Consent. , References -- Clinical and Molecular Variability in Patients with PHKA2 Variants and Liver Phosphorylase b Kinase Deficiency -- Abstract -- Introduction -- Materials and Methods -- Patients -- PHKA2 Gene Sequencing -- Results -- Diagnosis -- Initial Clinical Presentation -- Hepatomegaly and Abdominal Imaging -- Liver Histology -- Glucose and Ketone Levels -- Growth -- Cardiology Evaluations -- General Laboratory Testing and Evaluations -- Treatment -- PHKA2 Gene Sequencing -- Discussion -- References -- Hyperphenylalaninemia Correlated with Global Decrease of Antioxidant Genes Expression in White Blood Cells of Adult Patients w... -- Abstract -- Introduction -- Methods -- Patients and Controls -- Biochemical Tests -- Oxidative Stress Parameters Measurement -- Reactive Oxygen Species (ROS) Measurement -- Antioxidant Genes Expression Profile -- Statistical Analysis -- Results -- Subjects -- Biochemical Parameters -- Redox Parameters -- Relationship Between Metabolic Factors and Antioxidant Status -- Discussion -- Take-Home Message (Synopsis) -- Conflict of Interest -- Informed Consent -- Author Contributions -- Details of Funding -- Details of Ethics Approval -- References -- The Impact of Fabry Disease on Reproductive Fitness -- Abstract -- Introduction -- Methods -- Institutional Review Board Approval -- Participants and Recruitment -- Survey Population -- Survey Design -- Statistical Analysis -- Results -- Fabry Related Syndrome and Health History -- Rate of Biological Children -- Infertility in Males -- Infertility in Females -- Adoption -- Impact of Known Diagnosis of Fabry Disease -- Elective Terminations -- Use of Preimplantation Genetic Diagnosis or Other Assisted Reproductive Technology -- Reproductive Decision-Making and Fabry Disease -- Discussion -- Summary -- Compliance with Ethics Guidelines -- Informed Consent -- Contributions. , Appendix 1: FIT Survey Sample Questions. Questions Were Presented to Be Answered as Self-Response Multiple Choice, Yes or No, ... -- Appendix 2: Reproductive Decision-Making and Fabry Disease (Selection of Free Response Answers) -- References -- Neonatal-Onset Hereditary Coproporphyria: A New Variant of Hereditary Coproporphyria -- Abstract -- Introduction -- Case Report -- Methods -- Results -- Discussion -- Compliance with Ethics Guidelines -- Conflict of Interest -- Informed Consent -- Details of the Contributions of Individual Authors -- Take-Home Message -- Funding -- Guarantor for the Article, Accepts Full Responsibility for the Work and/or the Conduct of the Study, Had Access to the Data, a... -- References -- Treatment Adherence and Psychological Wellbeing in Maternal Carers of Children with Phenylketonuria (PKU) -- Abstract -- Introduction -- Method -- Participants -- Measures -- Psychological Distress -- Parenting Stress -- Resilience -- Social Support -- Child Dependency -- Treatment Adherence -- Procedure -- Statistical Analysis -- Results -- Discussion -- Limitations -- Implications for Clinical Practice -- Synopsis -- Compliance with Ethics Guidelines -- Conflict of Interest -- Informed Consent -- Details of the Contributions of Individual Authors -- References -- Systematic Review and Meta-analysis of Intelligence Quotient in Early-Treated Individuals with Classical Galactosemia -- Abstract -- Introduction -- Methods -- Eligibility Criteria -- Inclusion and Exclusion Criteria -- Identifying Studies -- Study Selection Process -- Data Collection Process: Individual Patient Data -- Data Items: Individual Patient Data -- Individual Patient Data Integrity -- Risk of Bias Assessment in Individual Studies -- Specification of Outcomes and Effect Measures -- Statistical Analysis -- Results -- Study Selection Process -- Meta-analysis. , Secondary Outcomes -- Risk of Bias Within Studies and Quality of Evidence -- Meta-analysis Full-Scale Intelligence Quotient -- Full-Scale Intelligence Quotient in CG -- Males and Females -- FSIQ Score and Age -- Performance and Verbal IQ Scores in Early-Treated CG Individuals -- Discussion -- Conclusions -- Take-Home Message -- Contributions of Individual Authors -- Guarantor -- Conflict of Interest -- Details of Funding -- Details of Ethics Approval -- References.

Note: Intro -- Contents -- A De Novo Variant in Galactose-1-P Uridylyltransferase (GALT) Leading to Classic Galactosemia -- Abstract -- Introduction -- Methods -- Study Volunteers -- GALT Genotyping of DNA from the Child -- GALT Genotyping of DNA from Both Parents -- Affymetrix 6.0 Microarray Analysis of Genomic Markers in the Trio -- Results -- Case Report -- Dideoxy Sequencing Reveals a Novel GALT Variant in a Child with Classic Galactosemia -- Dideoxy Sequencing of Parental GALT Loci Coupled with Comprehensive Genomic SNP Analysis of the Trio Reveals that c.563A> -- C (p.... -- Discussion -- 1-Sentence Synopsis -- Compliance with Ethical Guidelines -- Conflict of Interest -- Informed Consent -- Animal Rights -- Contributions of Each Author -- References -- Refsum Disease Presenting with a Late-Onset Leukodystrophy -- Abstract -- Discussion -- One Sentence Take-Home Message -- Compliance with Ethics Guidelines -- Conflict of Interest -- Informed Consent -- Animal Rights -- Details of the Contributions of Individual Authors -- References -- Making the White Matter Matters: Progress in Understanding Canavan´s Disease and Therapeutic Interventions Through Eight Decad... -- Abstract -- Clinical Description -- Aspartoacylase: Biochemistry and Genetics -- Characterization of the Substrate -- Theories Behind the Molecular Etiology of CD -- Molecular Water Pump (MWP) and Osmolyte Imbalance Theory -- Dysmyelination Theory -- Deficiency of AspA-Derived Acetate Compromises Oligodendrocyte Differentiation -- Protein Folding and Stabilization Theory -- Oxidative Stress Theory -- Treatment Strategies -- Palliative Measures -- Symptomatic Treatment of Disease -- Addressing Elevated Substrate in the Context of Deficient Aspartoacylase -- Addressing the Deficiency of the Enzyme Aspartoacylase -- Gene Therapy Using Gene Replacement Strategy. , Perspectives and Future Directions -- One Sentence Synopsis -- Compliance with Ethics Guidelines -- Conflict of Interest -- Informed Consent -- Animal Rights -- Details of the Contributions of Individual Authors -- References -- Disordered Eating and Body Esteem Among Individuals with Glycogen Storage Disease -- Abstract -- Introduction -- Methods -- Participants -- Procedure -- Measures -- Eating Disorders Inventory-3 (EDI-3) -- Eating Disorders Inventory-Child (EDI-C) -- Eating Attitudes Test (EAT) -- Children´s Eating Attitude Test (ChEAT) -- Body Esteem Scale (BES) -- Body Esteem Scale for Children (BES-C) -- Open-Ended Interview -- Data Analysis -- Results -- Bullying/Teasing -- Weight -- Height -- Negative Body Image -- Positive Body Image -- Age-Related Acceptance -- Discussion -- Conclusions -- Compliance with Ethics Guidelines -- Synopsis -- Conflict of Interest -- Informed Consent -- Author Contributions -- References -- One Year Experience of Pheburane (Sodium Phenylbutyrate) Treatment in a Patient with Argininosuccinate Lyase Deficiency -- Abstract -- Compliance with Ethics Guidelines -- Conflict of Interest -- Informed Consent -- Authors´ Contributions -- References -- Growth Hormone Deficiency and Lysinuric Protein Intolerance: Case Report and Review of the Literature -- Abstract -- Introduction -- Case Presentation -- Case Report -- Discussion -- Conflict of Interest -- Informed Consent -- Animal Rights -- Author´s Contributions -- References -- Geographical and Ethnic Distribution of Mutations of the Fumarylacetoacetate Hydrolase Gene in Hereditary Tyrosinemia Type 1 -- Abstract -- Introduction -- Patients and Methods -- Results and Discussion -- Fah Gene Characteristics and Mutations -- Reclassification of HT1 Mutations -- Predominance of Ethnic Groups in HT1 Distribution -- Most Frequent HT1 Alleles Around the World -- Conclusions. , Synopsis -- Compliance with Ethics Guidelines -- Conflict of Interest -- Informed Consent -- Animal Rights -- Author´s Contributions -- References -- Pathologic Variants of the Mitochondrial Phosphate Carrier SLC25A3: Two New Patients and Expansion of the Cardiomyopathy/Skele... -- Abstract -- Introduction -- Materials and Methods -- Patients -- Patient 1 -- Patient 2 -- Sequencing for Patient 1 -- Sequencing for Patient 2 -- Model Building for PiC -- Results -- Patient 1 -- Patient 2 -- Discussion -- Synopsis -- Compliance with Ethical Guidelines -- Conflict of Interest -- Animal Rights -- Informed Consent -- Contributions of Each Author -- References -- Baseline Urinary Glucose Tetrasaccharide Concentrations in Patients with Infantile- and Late-Onset Pompe Disease Identified by... -- Abstract -- Introduction -- Materials and Methods -- Materials -- Patients -- Control Samples -- Glc4 Determination in Dried Urine Samples Using Stable Isotope Dilution-ESI-MS/MS -- Statistical Analyses -- Results -- Urinary Glc4 in Control Samples -- Baseline Urinary Glc4 Concentrations -- Comparison of Urinary Glc4 and Serum Creatine Kinase at Baseline -- Pretreatment Monitoring of Glc4 in Patients with a Late-Onset Phenotype -- Discussion -- Synopsis -- Details of Funding -- Compliance with Ethics Guidelines -- Conflict of Interest -- Informed Consent -- Author Contributions -- References -- Developmental Outcomes of School-Age Children with Duarte Galactosemia: A Pilot Study -- Abstract -- Introduction -- Methods -- Study Participants -- Procedures -- Outcome Measures -- Analyses of Data -- Results -- Demographics and Family Information -- Birth and Diet History: Biochemical and GALT Genotype Data -- Cognitive Outcomes -- Auditory Processing (ABER) -- Communication -- Physical/Motor Development -- Socio-emotional and Behavioral/Social Skills Outcomes. , Educational and Intervention Status -- Relationship Between Parent-Response Results (DP-3) and Direct Testing for Outcome Parameters -- Comparisons Among Siblings -- Discussion -- Conclusion -- 1-Sentence Synopsis -- Compliance with Ethical Guidelines -- Conflict of Interest -- Informed Consent -- Animal Rights -- Contributions of Each Author -- References -- Molecular Diagnosis of Hereditary Fructose Intolerance: Founder Mutation in a Community from India -- Abstract -- Introduction -- Materials and Methods -- Molecular Analysis -- Bioinformatics Analysis -- Results -- Molecular and Computational Analysis -- Haplotype Analysis -- Discussion -- Take-Home Message -- Conflict of Interest -- Details of the Contributions of Individual Authors -- References -- Leigh Syndrome Caused by the MT-ND5 m.13513G> -- A Mutation: A Case Presenting with WPW-Like Conduction Defect, Cardiomyopathy, Hy... -- Abstract -- Introduction -- Case Report -- Clinical course -- Discussion -- Compliance with Ethics Guidelines -- Conflict of Interest -- Consent -- Details of the Contributions of Individual Authors -- References -- Deep Genotyping of the IDS Gene in Colombian Patients with Hunter Syndrome -- Abstract -- Introduction -- Methods -- Phenotypic Analysis -- Genotyping -- Bioinformatic Analysis -- Results -- Clinical Characterization of Patients -- Genotyping of MPSII Patients -- Bioinformatic Results -- Discussion -- Clinical Characterization -- Mutational Profile -- Bioinformatic Analysis and Effect of Mutations on the Tridimensional Structure of hIDS -- Conclusions -- One-Sentence Take-Home Message -- Compliance with Ethics Guidelines -- Conflict of Interest -- Details of the Contribution of Individual Authors -- References -- Expanding the Clinical Spectrum of Mitochondrial Citrate Carrier (SLC25A1) Deficiency: Facial Dysmorphism in Siblings with Epi. , Abstract -- Introduction -- Case Reports -- Molecular and Metabolic Studies -- Discussion -- Compliance with Ethics Guidelines -- References -- A Korean Case of beta-Ureidopropionase Deficiency Presenting with Intractable Seizure, Global Developmental Delay, and Microce... -- Abstract -- Introduction -- Case Report -- Discussion -- Take-Home Message -- Contribution of Individual Authors -- Guarantor for the Article -- Details of Funding -- Details of Ethics Approval -- Conflicting Interests -- Informed Consent -- References -- Erratum to: Growth Hormone Deficiency and Lysinuric Protein Intolerance: Case Report and Review of the Literature.

Note: Intro -- Contents -- Innate and Adaptive Immune Response in Fabry Disease -- Abstract -- Introduction -- Proinflammatory Pattern in Naive-Treatment FD Patients -- Immune Adaptive Responses Against Agalsidase in Fabry Disease -- Conclusion -- Synopsis -- Compliance with Ethics Guidelines -- Conflict of Interest -- Informed Consent -- Animal Rights -- Details of the Contributions of Individual Authors -- References -- Asparagine Synthetase Deficiency: New Inborn Errors of Metabolism -- Abstract -- Introduction -- Case Report -- Discussion -- Take-Home Message -- Conflict of Interest -- Informed Consent -- Authors´ Contributions -- References -- Occurrence of Malignant Tumours in the Acute Hepatic Porphyrias -- Abstract -- Introduction -- Material and Methods -- Patients and Questionnaire -- Incidence and Prevalence of AHP and Relative Risk of HCC -- Results -- Questionnaire -- Malignant Tumours -- Incidence of AHP -- Prevalence of AHP -- Relative Risk of Developing HCC -- Discussion -- Synopsis -- Author Contribution -- Compliance with Ethics Guidelines -- Conflict of Interest -- References -- Improvement in Bone Mineral Density and Architecture in a Patient with Gaucher Disease Using Teriparatide -- Abstract -- Introduction -- Case Report -- Results -- Discussion -- Synopsys -- Compliance with Ethics Guidelines -- Conflict of Interest -- Informed Consent -- Author Contributions -- References -- Networking Across Borders for Individuals with Organic Acidurias and Urea Cycle Disorders: The E-IMD Consortium -- Abstract -- Introduction -- Methods and Results -- The Network -- The Patient Registry -- Dissemination -- Guideline Development -- Evaluation -- Discussion -- Project Funding Mechanism -- Ethical Review Process -- Guidelines for Rare Diseases -- Looking Forward: Towards a European Reference Network for Inherited Metabolic Diseases -- Synopsis. , Compliance with Ethics Guidelines -- Conflict of Interest -- Informed Consent -- Details of the Contributions of Individual Authors -- Animal Rights -- References -- Two Novel Mutations in the SLC25A4 Gene in a Patient with Mitochondrial Myopathy -- Abstract -- Introduction -- Material and Methods -- Molecular Studies -- DNA Analysis -- cDNA Analysis -- Fibroblast Culture -- Results -- Mutation Analysis -- Q39Lfs*14 Mutation Leads to Partial Nonsense-Mediated Decay in Fibroblasts -- Discussion -- Synopsis -- Details of the Contributions of Individual Authors -- Name of One Author Who Serves as Guarantor -- Conflict of Interest -- Compliance with Ethics Guidelines -- References -- Combined Sepiapterin Reductase and Methylmalonyl-CoA Epimerase Deficiency in a Second Patient: Cerebrospinal Fluid Polyunsatur... -- Abstract -- Introduction -- Methods -- Neurotransmitter Analysis in CSF -- Molecular Analysis -- GC-MS PUFA Analysis -- Case Story -- PUFA Analysis -- Discussion -- Conclusion -- Take-Home Message -- Disclosure -- Compliance with Ethics Guidelines -- Conflict of Interest -- Informed Consent -- Details of the Contributions of Individual Authors -- References -- Audit of the Use of Regular Haem Arginate Infusions in Patients with Acute Porphyria to Prevent Recurrent Symptoms -- Abstract -- Introduction -- Design and Methods -- Results -- Patients -- Presenting Features -- History Before Prophylaxis -- Prophylactic Haem Arginate Treatment -- Stopping Prophylactic Haem Arginate Treatment -- Discussion -- Synopsis -- Compliance with Ethics Guidelines -- Conflict of Interest -- Informed Consent -- Details on Contributions of Individual Authors -- References -- Normal Cerebrospinal Fluid Pyridoxal 5-Phosphate Level in a PNPO-Deficient Patient with Neonatal-Onset Epileptic Encephalopathy -- Abstract -- Introduction -- Methods. , Cerebrospinal Fluid Analysis -- Mutant PNPO Expression Studies -- Literature Review -- Results -- Case Description -- Targeted Literature Review -- Clinical Findings -- Findings in Cerebrospinal Fluid -- Discussion -- Synopsis -- Compliance with Ethics Guidelines -- Conflicts of Interest -- Informed Consent -- Details of the Contributions of Individual Authors -- References -- Bladder and Bowel Dysfunction Is Common in Both Men and Women with Mutation of the ABCD1 Gene for X-Linked Adrenoleukodystrophy -- Abstract -- Introduction -- Methods -- Results -- Pattern of Bladder Symptoms and Severity -- Impact of Bladder Symptoms on Health-Related Quality of Life -- Pattern of Bowel Complaints -- Discussion -- Take-Home Message (Synopsis) -- Compliance with Ethical Guidelines -- Conflict of Interest -- Ethics Approval -- Details of the Contributions of Individual Authors -- References -- Extreme Contrast of Postprandial Remnant-Like Particles Formed in Abetalipoproteinemia and Homozygous Familial Hypobetalipopro... -- Abstract -- Introduction -- Methods -- Genetic Analysis -- Measurement of Lipids, Apolipoproteins, and Fat-Soluble Vitamins -- Oral Fat Tolerance Test -- Case Report -- Discussion -- Take Home Message -- Compliance with Ethics Guidelines -- Conflict of Interest -- Author Contributions -- References -- Girls with Seizures Due to the c.320A> -- G Variant in ALG13 Do Not Show Abnormal Glycosylation Pattern on Standard Testing -- Abstract -- Introduction -- Case Report and Literature Review -- Discussion -- Summary Sentence -- Compliance with Ethics Guidelines -- Informed Consent -- Conflict of Interest -- Author Contributions -- References -- Monitoring of Therapy for Mucopolysaccharidosis Type I Using Dysmorphometric Facial Phenotypic Signatures -- Abstract -- Introduction -- Methods -- Participants -- 3D Image Acquisition, Data Preparation. , Anthropometric Masks and Facial Mapping -- Reference Face Space -- Dysmorphometrics -- Normal Equivalent Facial Assessments -- Results -- Discussion -- Conclusion -- Synopsis -- Compliance with Ethics Guidelines -- Conflict of Interests -- Informed Consent -- Author Contributions -- Guarantor -- References -- Age at First Cardiac Symptoms in Fabry Disease: Association with a Chinese Hotspot Fabry Mutation (IVS4+919G> -- A), Classical Fab... -- Abstract -- Introduction -- Patients and Methods -- Statistical Analyses -- Results -- Discussion -- Conclusions -- Compliance with Ethics Guidelines -- Conflict of Interest -- Informed Consent -- Details of the Contributions of Individual Authors -- References -- Mitochondrial Complex III Deficiency Caused by TTC19 Defects: Report of a Novel Mutation and Review of Literature -- Abstract -- Introduction -- Case Report -- Discussion and Conclusion -- Synopsis -- Compliance with Ethics Guidelines -- Conflict of Interest -- Informed Consent -- Animal Rights -- Details of the Contributions of Individual Authors -- References.

Note: Intro -- Contents -- Part I Reports on Alkaptonuria -- Analysis of HGD Gene Mutations in Patients with Alkaptonuria from the United Kingdom: Identification of Novel Mutations -- Abstract -- Introduction -- Material and Methods -- Subjects -- Mutation Analysis of the HGD Gene -- Results and Discussion -- Conclusion -- Compliance with Ethics Guidelines -- Informed Consent -- Details of the Contributions of Individual Authors -- References -- Metabolic Effects of Increasing Doses of Nitisinone in the Treatment of Alkaptonuria -- Abstract -- Introduction -- Methods -- Patient Enrollment -- Sample Storage -- Sample Preparation -- Sample Acquisition Methods -- Statistical Analysis -- Results -- HGA in Urine -- Tyrosine and NTBC in Plasma -- Untargeted Metabolomics Analysis -- Patient Symptoms -- Discussion -- Synopsis -- Compliance with Ethics Guidelines -- Conflicts of Interest -- Informed Consent -- Author Contributions -- References -- Relationship Between Serum Concentrations of Nitisinone and Its Effect on Homogentisic Acid and Tyrosine in Patients with Alka... -- Abstract -- Introduction -- Materials and Methods -- Patients -- Study Design and Treatments -- Measurements -- Calculations and Statistics -- Results -- Demographics -- Nitisinone Pharmacokinetics -- Relationship Between Nitisinone Exposure and the Effect on HGA and Tyrosine -- Discussion -- Synopsis (Take-Home Message) -- Compliance with Ethics Guidelines -- Conflict of Interest -- Contributors -- References -- Investigating the Robustness and Diagnostic Potential of Extracellular Matrix Remodelling Biomarkers in Alkaptonuria -- Abstract -- Introduction -- Methods -- Clinical Cohort -- Measurements -- Robustness Analysis -- Creatinine Assessment -- Assessment of HGA Interference with Hydroxyperoxidase-Based ELISAs -- Results -- Robustness Analysis of the Biomarkers. , Interference of HGA with Enzyme-Based Assays -- Diagnostic Markers of ECM Remodelling in AKU -- Discussion -- Conclusions -- Synopsis -- Compliance with Ethics Guidelines -- Conflict of Interests -- Informed Consent -- Details of the Contributions of Individual Authors -- References -- Age-Related Deviation of Gait from Normality in Alkaptonuria -- Abstract -- Introduction -- Participants and Methods -- Results -- Discussion -- Conclusions -- Take-Home Message -- Compliance with Ethics Guidelines -- Conflict of interests -- Informed Consent -- Contributions of Individual Authors -- References -- Nitisinone Arrests but Does Not Reverse Ochronosis in Alkaptonuric Mice -- Abstract -- Introduction -- Materials and Methods -- Mice -- Sample Preparation -- Chromatographic Conditions -- Midlife Nitisinone Treatment -- Nitisinone Dose-Response -- Histological Analysis -- Quantification of Pigmented Chondrons -- Statistical Analyses -- Results -- Discussion -- Synopsis -- Compliance with Ethics Guidelines -- Conflicts of Interest -- Animal Rights -- Author Contributions -- References -- The Pigment in Alkaptonuria Relationship to Melanin and Other Coloured Substances: A Review of Metabolism, Composition and Che... -- Abstract -- Introduction -- Background -- Melanins -- Melanin Types -- Biosynthetic Pathways of Eumelanin and Pheomelanin -- Pigmentation in AKU: The Nature of the Pigment -- Analysis/Detection of the Melanin Types -- Analysis of Pigment Derived from HGA -- Compliance with Ethics Guidelines -- Conflict of Interest -- References -- Part II Case and Research Reports -- Serum GDF15 Levels Correlate to Mitochondrial Disease Severity and Myocardial Strain, but Not to Disease Progression in Adult ... -- Abstract -- Introduction -- Methods -- Patients -- GDF15 -- Medical Ethical Approval -- Myocardial Strain Measurement -- Statistics -- Results. , Patient Characteristics -- The Value of GDF15 as an Indicator of Clinical Disease Severity -- Covariates for the Concentration of GDF15 -- The Value of GDF15 in Predicting Clinical Disease Progression -- Myocardial Strain -- Family-Matched Controls -- Discussion -- Take-Home Message -- Conflict of Interest -- Informed Consent -- Details of the Contributions of Authors -- References -- Novel Genetic Mutations in the First Swedish Patient with Purine Nucleoside Phosphorylase Deficiency and Clinical Outcome Afte... -- Abstract -- Introduction -- Patient -- Investigations -- Genetic and Enzymatic Analysis -- Transplantation -- Engraftment and Immunological Reconstitution -- Posttransplant Morbidity -- Neurological Development -- Literature Review -- Discussion -- Conclusion -- Synopsis -- Compliance with Ethics Guidelines -- Informed Consent -- Author Contributions -- Conflict of Interest -- References -- CSF 5-Methyltetrahydrofolate Serial Monitoring to Guide Treatment of Congenital Folate Malabsorption Due to Proton-Coupled Fol... -- Abstract -- Introduction -- Case Report -- Results -- Discussion -- Conclusion -- Compliance with Ethics Guidelines -- Conflict of Interest: -- Informed Consent -- References -- A Novel Catastrophic Presentation of X-Linked Adrenoleukodystrophy -- Abstract -- Introduction -- Case Presentation -- Discussion -- Conclusion -- Synopsis -- Compliance with Ethics Guidelines -- Conflict of Interest -- Informed Consent -- Author Contributorship Statement -- References -- High Incidence of Biotinidase Deficiency from a Pilot Newborn Screening Study in Minas Gerais, Brazil -- Abstract -- Introduction -- Methods -- DNA Sequencing -- Results -- Discussion -- Synopsis -- Compliance with Ethics Guidelines -- Conflict of Interest -- Informed Consent -- Details of the Contributions of Individual Authors -- References. , Dopamine-Responsive Growth-Hormone Deficiency and Central Hypothyroidism in Sepiapterin Reductase Deficiency -- Abstract -- Introduction -- Case Summary -- History and Examination -- Treatment and Follow-Up -- Discussion -- Conclusion -- Synopsis -- References to Electronic Databases -- Competing Interest Statement -- Details of Contributions of Individual Authors -- Name of One Author Who Serves as Guarantor -- Ethical Approval -- References -- Clinical Findings and Natural History in Ten Unrelated Families with Juvenile and Adult GM1 Gangliosidosis -- Abstract -- Introduction -- Patients and Methods -- Results -- Discussion -- Conclusions -- Synopsis -- Compliance with Ethics Guidelines -- Conflict of Interest Statement -- Informed Consent -- Animal Rights -- Details of Author Contributions -- References -- High Incidence of Serologic Markers of Inflammatory Bowel Disease in Asymptomatic Patients with Glycogen Storage Disease Type ... -- Abstract -- Background -- Methods -- Results -- Discussion -- Conclusions -- Synopsis -- Compliance with Ethics Guidelines -- Conflict of Interest -- Informed Consent -- Details of the Contributions of Individual Authors -- References.