Last update 08 May 2025

Hyperprolinemia Type 2

Basic Info

Synonyms
1 alpha pyrroline-5-carboxylate dehydrogenase deficiency, 1-PYRROLINE-5-CARBOXYLATE DEHYDROGENASE DEFICIENCY, 1-Pyrroline-5-Carboxylate Dehydrogenase Deficiency
+ [24]
Introduction
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.

Analysis

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