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GENATLAS PHENOTYPE

last update : 19/07/2006

Symbol	MCCC1
Location	3q25-q27
Name	3-@methylcrotonyl-CoA carboxylase 1 deficiency
Corresponding gene	MCCC1
Other symbol(s)	MCCD1
Main clinical features	variable, usually normal growth and development, presenting, between 12 month and five years of age, an acute episode including vomiting, acidosis and coma ressembling Reye syndrome and associated with urine excretion of 3 hydroxy-iovaleric, 3-methylcrotonylglcine and 3 hydroxy-isovaleric carnitine
Genetic determination	autosomal recessive
Function/system disorder	metabolism/organic acid
Type	disease

Gene product

Name	isolated 3-methylcrotonyl carboxylase deficiency