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Hyperprolinemia type 2
rareHyperprolinemia 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.
- Identifiers
- MONDO:0009401 OMIM:239510Orphanet:79101
- Causal genes
- ALDH4A1
- Part of
- Hyperprolinemia
- Also known as
- 1 alpha pyrroline-5-carboxylate dehydrogenase deficiency · 1-pyrroline-5-carboxylate dehydrogenase activity disease · ALDH4A1 hyperprolinemia · delta-1-pyrroline-5-carboxylate dehydrogenase deficiency · delta1-pyrroline-5-carboxylate dehydrogenase deficiency
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