3-methylcrotonyl-CoA carboxylase deficiency

Orpha code: 6OMIM code: 210210

Definition

A rare inherited disorder of leucine metabolism characterized by a highly variable clinical picture ranging from metabolic crisis in infancy to asymptomatic adults.

Disease data
Classification

Disease

Synonyms
3-methylcrotonylglycinuria
3-metylokrotonyloglicynuria
MCCD
Niedobór MCC
MCC deficiency
MCCD
ORPHA code
6
OMIM code
210210
ICD10 code
E71.1
ICD11 code
5C50.E0

No additional description.

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