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References OMIM Gene GeneReviews HGMD HGNC
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.