Orphanet: Hyperprolinemia type 2

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Hyperprolinemia type 2

Disease definition

Hyperprolinemia type 2 is an autosomal recessive proline metabolism disorder due to pyroline-5-carboxylate dehydrogenase deficiency. The condition is often benign but clinical signs may include seizures, intellectual deficit and mild developmental delay.


Classification level: Disorder
  • Synonym(s):
    • Delta-1-pyrroline-5-carboxylate dehydrogenase deficiency
  • Prevalence: Unknown
  • Inheritance: Autosomal recessive 
  • Age of onset: All ages
  • ICD-10: E72.5
  • OMIM: 239510
  • UMLS: C0268530  C2931835
  • MeSH: C538385
  • GARD: 1798  6710
  • MedDRA: 10058512  10058514
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