In:
Pediatrics, American Academy of Pediatrics (AAP), Vol. 70, No. 4 ( 1982-10-01), p. 532-538
Abstract:
An infant, born to parents who were first cousins had multiple physical malformations. An associated biochemical abnormality was suggested by the urinary excretion of cysteine and cysteamine conjugates of methacrylic acid. The coenzyme A (CoA) ester of this compound is an intermediate in the pathway of valine oxidation. Subsequent investigation revealed a deficiency of β-hydroxyisobutyryl-CoA deacylase, an enzyme unique to valine metabolism. The enzyme defect results in accumulation of methacrylyl-CoA, a highly reactive compound, which readily undergoes addition reactions with free sulfhydryl groups. Tissue damage due to reactions between methacrylyl-CoA and important sulfhydryl-containing enzymes and cofactors may account for the teratogenic effects seen in this patient.
Type of Medium:
Online Resource
ISSN:
0031-4005
,
1098-4275
DOI:
10.1542/peds.70.4.532
Language:
English
Publisher:
American Academy of Pediatrics (AAP)
Publication Date:
1982
detail.hit.zdb_id:
1477004-0
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