Hyperprolinemia type 2

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.

Also known as: 1-pyrroline-5-carboxylate dehydrogenase activity disease, ALDH4A1 hyperprolinemia, delta-1-pyrroline-5-carboxylate dehydrogenase deficiency, delta1-pyrroline-5-carboxylate dehydrogenase deficiency, disorder of 1-pyrroline-5-carboxylate dehydrogenase activity, hyperprolinemia caused by mutation in ALDH4A1, hyperprolinemia type 2, 1 alpha pyrroline-5-carboxylate dehydrogenase deficiency

0 clinical trials for this condition and its sub-types.