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GENATLAS PHENOTYPE

last update : 22/08/2006

Symbol	MUT
Location	6p21.2-p21.1
Name	hyperglycinemia, ketotic methylmalonic acidemia
Other name(s)	methylmalonic aciduria due to methylmalonyl-coa mutase deficiency
Corresponding gene	MUT
related resource	MITOP database
Other symbol(s)	MMA
Main clinical features	postnatal ketoacidosis, vomiting and failure to thrive, developmental retardation and chronic metabolic acidosis, unresponsive to B12 therapy . partial, mut(-), or complete, mut(0), enzyme deficiency
Genetic determination	autosomal recessive
Function/system disorder	metabolism/organic acid
Type	disease

Gene product

Name	methylmalonyl CoA mutase (MUT), at least fifty essentially non recurrent point mutations

Mechanism(s)

Gene mutation	Chromosome rearrangement	Effect	Comments
missense		abnormal protein/loss of function	within the CoA binding beta/alpha barrel domain