Title : Biochemical and molecular characterization of 3-Methylcrotonylglycinuria in an Italian asymptomatic girl.

Pub. Date : 2018 Apr./Jun

PMID : 29767664






1 Functional Relationships(s)
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1 3-Methylcrotonylglycinuria is an organic aciduria resulting from deficiency of 3-methylcrotonyl-CoA carboxylase (3-MCC), a biotin-dependent mitochondrial enzym carboxylating 3-methylcrotonyl-CoA to 3-methylglutaconyl-CoA during leucine catabolism. 3-methylbut-2-enoyl-CoA MCC regulator of WNT signaling pathway Homo sapiens