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Definition

An inborn error of proline metabolism resulting in elevated plasma levels of proline and delta-1-pyrroline-5-carboxylate (P5C). The condition is considered to be benign, but affected individuals can exhibit neurological manifestations that vary in severity. Clinical signs include seizures, intellectual deficit and mild developmental delay.

Acronym

HYRPRO2

Synonyms

1-pyrroline-5-carboxylate dehydrogenase deficiency
HPII
Hyperprolinemia type II

 
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Main funding by: National Institutes of Health

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