Disease - 3-methylcrotonoyl-CoA carboxylase 1 deficiency
Definition
An autosomal recessive disorder of leucine catabolism. The phenotype is variable, ranging from neonatal onset with severe neurological involvement to asymptomatic adults. There is a characteristic organic aciduria with massive excretion of 3-hydroxyisovaleric acid and 3-methylcrotonylglycine, usually in combination with a severe secondary carnitine deficiency.
Acronym
MCC1D
Synonyms
3-methylcrotonylglycinuria type I
MCC1 deficiency
MCCD type 1
MCGI
Methylcrotonylglycinuria type I
MCC1 deficiency
MCCD type 1
MCGI
Methylcrotonylglycinuria type I
Disclaimer
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