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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.

ORPHA:79101

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: C2931835
  • MeSH: C538385
  • GARD: 1798  6710
  • MedDRA: 10058512  10058514

  A summary on this disease is available in Deutsch (2012) Español (2012) Français (2012) Italiano (2012) Nederlands (2012)

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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.