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GENATLAS PHENOTYPE
last update : 31/05/2006
Symbol SCDD
Location 7q31.3
Name saccharopine dehydrogenase deficiency
Other name(s) saccharopinuria
Corresponding gene AASS
Other symbol(s) AASS
Main clinical features prominent saccharopinuria, exceding the associated lysinuria with a reduced lysine-ketoglutarate activity and undetectable saccharopine dehydrogenase activity
Genetic determination autosomal recessive
Function/system disorder metabolism/aminoacids
Type disease
Gene product
Name alpha-aminoadipic semialdehyde synthase