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GENATLAS PHENOTYPE

last update : 10-01-2009

Symbol	MMSDHD
Location	14q24,2
Name	methylmalonate semialdehyde dehydrogenase deficiency
Corresponding gene	ALDH6A1
Main clinical features	elevated beta-alanine, 3-hydroxypropionic acid, and both isomers of 3-amino and 3-hydroxyisobutyric acids in urine organic acids inborn error of metabolism specific to the L-valine catabolic pathway
Genetic determination	autosomal recessive
Function/system disorder	metabolism/aminoacids
Type	disease

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