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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

MCC2D

Synonyms

3-methylcrotonylglycinuria type II
MCC2 deficiency
MCGII
Methylcrotonylglycinuria type II

 
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