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Hyperprolinemia type 2

Synonym(s) Delta1-pyrroline-5-carboxylate dehydrogenase deficiency
Prevalence Unknown
Inheritance Autosomal recessive
Age of onset All ages
  • E72.5
  • C0268530
  • C2931835
  • C538385
  • 10058512
  • 10058514


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.

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