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;
Origin ID : 1574091524;
Automatic exact mappings (from CISMeF team)
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.
