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3-methylcrotonyl-CoA carboxylase deficiency

Disease Export to PDF
Name:
3-methylcrotonyl-CoA carboxylase deficiency
Description:
A rare inherited disorder of leucine metabolism characterized by a highly variable clinical picture ranging from metabolic crisis in infancy to asymptomatic adults.
ORPHAcode:
6
Synonyms:
3-methylcrotonylglycinuria
MCC deficiency
MCCD
XREF(s):
Orphanet
OMIM
OMIM
MeSH
ICD-10
Analyte(s):
MCCC1
MCCC2
Created:
13 May 2019 - 01:02
Changed:
22 Jun 2023 - 16:14