" /> Hyperprolinaemia type 2 - CISMeF





Preferred Label : Hyperprolinaemia type 2;

ICD-11 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.;

ICD-11 synonym : Pyrroline-5-carboxylase reductase deficiency; Delta1-pyrroline-5-carboxylate dehydrogenase deficiency;

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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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27/07/2025


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