3-methylcrotonyl CoA carboxylase deficiency
- 3-methylcrotonyl CoA carboxylase deficiency
- 3-meth·yl·cro·to·nyl CoA car·box·y·lase de·fi·cien·cy (meth″əl-kroґtə-nil″ ko-aґ kahr-bokґsə-lās) an autosomal recessive aminoacidopathy due to deficiency of methylcrotonoyl-CoA carboxylase, which can result from mutation in either of two genes: MCCC1 (locus: 3q25-q27), which encodes the biotin-containing alpha subunit, or MCCC2 (locus: 5q12-q13), which encodes the non–biotin-containing beta subunit. It is characterized by increased urine levels of 3-methylcrotonylglycine, 3-methylcrotonic acid, and 3-hydroxyisovaleric acid and variable presentation of mental retardation, central nervous system dysfunction, and muscular atrophy. Written also β-methylcrotonyl CoA carboxylase deficiency.
Medical dictionary.
2011.
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