hyperprolinemia type 1 https://www.malacards.org/card/hyperprolinemia_type_i Orphanet:419 ICD9:270.8 OMIM:239500 hyperprolinemia caused by mutation in PRODH SCTID:61071003 MEDGEN:120645 HPI DOID:0080542 hyperprolinemia type 1 proline oxidase deficiency HYRPRO1 hyperprolinemia, type I Hyperprolinaemia type I is an inborn error of proline metabolism characterized by elevated levels of proline in the plasma and urine. The prevalence is unknown. The disorder is generally considered to be benign but associations with renal abnormalities, epileptic seizures, and other neurological manifestations, as well as certain forms of schizophrenia have been reported. It is transmitted as an autosomal recessive trait and is caused by mutations in the proline dehydrogenase or proline oxidase gene (PRODH or POX, 22q11.2). PRODH hyperprolinemia GARD:0024670 UMLS:C0268529 MedDRA:10058513 MONDO:0009400 hyperprolinemia obsolete_hyperprolinemia type 1