hyperprolinemia type 2

info · Genetic

A hyperprolinemia that has_material_basis_in homozygous or compound heterozygous mutation in the pyrroline-5-carboxylate dehydrogenase gene on chromosome 1p36.

Signs and symptoms

Reduced tissue delta-1-pyrroline-5-carboxylate dehydrogenase activity
Prolinuria
Seizure
Elevated urinary pyrroline hydroxycarboxylic acid level
Elevated circulating 1-pyrroline-5-carboxylic acid concentration
Hyperprolinemia
Hydroxyprolinuria
Hyperglycinuria
Intellectual disability

Also known as: hyperprolinemia type II