Hyperprolinaemia type 2 (Q56822): Difference between revisions
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Revision as of 04:31, 14 August 2026
Hyperprolinaemia 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.
| Language | Label | Description | Also known as |
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| default for all languages | ID_1574091524 |
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| English | Hyperprolinaemia type 2 |
Hyperprolinaemia 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. |
