β-Hydroxyisobutyryl coenzyme A deacylase deficiency: A defect in valine metabolism associated with physical malformations
GK Brown, SM Hunt, R Scholem, K Fowler… - …, 1982 - publications.aap.org
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 …
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 …