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GENATLAS PHENOTYPE

last update : 13/12/06

Symbol	HPI
Location	22q11.21
Name	hyperprolinemia type I
Other name(s)	proline oxidase deficiency
Corresponding gene	PRODH
Main clinical features	mental retardation, epilepsy and in some cases, psychiatric features . or asymptomatic depending on the level of hyperprolinemia
Genetic determination	autosomal recessive
Related entries	DEL22Q11
Function/system disorder	metabolism/aminoacids
Type	disease

Genotype/Phenotype correlations

POX residual activity in the 0-30% range results into HPI, whereas residual activity in the 30-50% range is associated either with normal plasma proline levels or with mild-to-moderate hyperprolinemia.