Orphanet: Search a disease

Search for a rare disease

* (*) mandatory field

Other search option(s)

Suggest an update

(*) Required fields.


Only comments seeking to improve the quality and accuracy of information on the Orphanet website are accepted. For all other comments, please send your remarks via contact us. Only comments written in English can be processed.

Captcha image

Hyperprolinemia type 1

Disease definition

Hyperprolinaemia type I is an inborn error of proline metabolism characterised 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).


Classification level: Disorder
  • Synonym(s):
    • Proline oxidase deficiency
  • Prevalence: Unknown
  • Inheritance: Autosomal recessive 
  • Age of onset: All ages
  • ICD-10: E72.5
  • OMIM: 239500
  • UMLS: C0268529
  • MeSH: -
  • GARD: 2847
  • MedDRA: 10058513
The documents contained in this web site are presented for information purposes only. The material is in no way intended to replace professional medical care by a qualified specialist and should not be used as a basis for diagnosis or treatment.