Hyperprolinemia, Type I

Alternative Names

  • HYPRO1
  • Proline Oxidase Deficiency
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WHO-ICD-10 version:2010

Endocrine, nutritional and metabolic diseases

Metabolic disorders

OMIM Number

239500

Mode of Inheritance

Autosomal recessive

Gene Map Locus

22q11.21

Description

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. [From Orphanet]

Epidemiology in the Arab World

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Other Reports

Lebanon

In a retrospective analysis of IEMs diagnosed over a 12-year period (1998-2010) in a hospital in Lebanon, Karam et al. (2013) found one patient diagnosed with hyperprolinemia type I. The patient was diagnosed at the age of 1 year and 3-months. 

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