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GENATLAS PHENOTYPE

last update : 5/09/2006

Symbol	P5CDD
Location	1p36
Name	hyperprolinemia, type II
Other name(s)	1-@pyrroline-5-carboxylate dehydrogenase deficiency
Corresponding gene	ALDH4A1
Main clinical features	characterized by an increased incidence of seizures, most notably febrile seizures, in childhood
Genetic determination	autosomal recessive
Function/system disorder	metabolism/aminoacids
Type	disease

Gene product

Name	delta 1-pyrroline-5-carboxylate dehydrogenase