beta-hydroxyisobutyryl coenzyme A deacylase deficiency: a defect in valine metabolism associated with physical malformations

Journal Article · Fri Oct 01 00:00:00 EDT 1982 · Pediatrics; (United States)

OSTI ID:6578883

Brown, G K; Hunt, S M; Scholem, R; Fowler, K; Grimes, A; Mercer, J F; Truscott, R M; Cotton, R G; Rogers, J G; Danks, D M

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 beta-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.

• Research Organization: Department of Paediatrics, University of Melbourne, Victoria, Australia
• OSTI ID: 6578883
• Journal Information: Pediatrics; (United States), Vol. 70:4
• Country of Publication: United States
• Language: English

Related Subjects

59 BASIC BIOLOGICAL SCIENCES
INFANTS
TERATOGENESIS
VALINE
METABOLISM
COENZYMES
CYSTEINE
ENZYMES
MEA
METHACRYLIC ACID
OXIDATION
SULFHYDRYL RADICALS
URINE
AGE GROUPS
AMINES
AMINO ACIDS
BIOLOGICAL MATERIALS
BIOLOGICAL WASTES
BODY FLUIDS
CARBOXYLIC ACIDS
CHEMICAL REACTIONS
CHILDREN
DRUGS
MATERIALS
MONOCARBOXYLIC ACIDS
ORGANIC ACIDS
ORGANIC COMPOUNDS
ORGANIC SULFUR COMPOUNDS
RADICALS
RADIOPROTECTIVE SUBSTANCES
THIOLS
WASTES
550900* - Pathology