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.
MONDO:0023419
hyperprolinemia
is_a
1 alpha pyrroline-5-carboxylate dehydrogenase deficiency
related
1-pyrroline-5-carboxylate dehydrogenase activity disease
exact
ALDH4A1 hyperprolinemia
exact
HPII
related
HYRPRO2
related
delta-1-pyrroline-5-carboxylate dehydrogenase deficiency
exact
delta1-pyrroline-5-carboxylate dehydrogenase deficiency
exact
disorder of 1-pyrroline-5-carboxylate dehydrogenase activity
exact
hyperprolinemia caused by mutation in ALDH4A1
exact
hyperprolinemia type 2
exact
hyperprolinemia, type II
related
type 2 hyperprolinemia
related
SPBC24C6.04