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).

ORPHA:419

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

  A summary on this disease is available in Español (2020) Français (2020) Nederlands (2020) Deutsch (2006) Italiano (2006)

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Further information on this disease

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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.