Orphanet: Hyperprolinemia type 1

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Hyperprolinemia type 1

Disease definition

A rare disorder of proline metabolism characterized biochemically by markedly elevated levels of proline in plasma and urine due to deficiency of proline oxidase. The reported clinical phenotype ranges from asymptomatic to variable neurologic and psychiatric manifestations (including global developmental delay, seizures, autistic features, and hyperactivity).


Classification level: Disorder
  • Synonym(s):
    • Proline oxidase deficiency
  • Prevalence: Unknown
  • Inheritance: Autosomal recessive 
  • Age of onset: All ages
  • ICD-10: E72.5
  • ICD-11: 5C50.8
  • OMIM: 239500
  • UMLS: C0268529
  • MeSH: -
  • GARD: 2847
  • MedDRA: 10058513
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