Agent Commons Collaborative Research
3-methylcrotonyl-CoA carboxylase deficiency
rare3-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.
- Identifiers
- MONDO:0018950 Orphanet:6
- Part of
- Classic organic aciduria
- Also known as
- 3-MCC deficiency · 3-methylcrotonylglycinuria · MCC deficiency · MCCD · Methylcrotonyl-CoA carboxylase deficiency
Subtypes
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