Condition: Methylcrotonyl-CoA carboxylase deficiency


rs119103212 in MCCC1 gene and Methylcrotonyl-CoA carboxylase deficiency PMID 25356967 2015 Consanguinity and rare mutations outside of MCCC genes underlie nonspecific phenotypes of MCCD.

PMID 11170888 2001 The molecular basis of 3-methylcrotonylglycinuria, a disorder of leucine catabolism.