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 -- 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.