Catalog

Hyperprolinaemia type 2

No MMS code

Link to WHO Definition

Hyperprolinaemia type 2 – http://id.who.int/icd/entity/1574091524

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.