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expandclassic organic aciduria (MONDO:0019215)
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expanddisease of catalytic activity (MONDO:0044976)
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..expand3-methylcrotonyl-CoA carboxylase deficiency ()

       Child Nodes:
........expand3-methylcrotonyl-CoA carboxylase 1 deficiency ()
........expand3-methylcrotonyl-CoA carboxylase 2 deficiency ()



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Further data from MedGen, OMIM,ClinVar, CTD
Term ID:18950
Name:3-methylcrotonyl-CoA carboxylase deficiency
Definition:3-methylcrotonyl-CoA carboxylase deficiency (3-MCCD) is an inherited disorder of leucine metabolism characterized by a highly variable clinical picture ranging from metabolic crisis in infancy to asymptomatic adults.
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Synonyms:3-MCC deficiency; 3-methylcrotonylglycinuria; 3MCC deficiency; BMCC deficiency; MCC deficiency; MCCD; Methylcrotonyl-CoA carboxylase deficiency; methylcrotonylglycinuria
Slim Mappings:
Reference: MedGen:
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OMIM:
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