hyperprolinemia type 1
Hyperprolinaemia type I is an inborn error of proline metabolism characterized by elevated levels of proline in the plasma and urine. The prevalence is unknown. The disorder is generally considered to be benign but associations with renal abnormalities, epileptic seizures, and other neurological manifestations, as well as certain forms of schizophrenia have been reported. It is transmitted as an autosomal recessive trait and is caused by mutations in the proline dehydrogenase or proline oxidase gene (PRODH or POX, 22q11.2).
MONDO:0023419
hyperprolinemia
is_a
HPI
related
HYRPRO1
related
PRODH hyperprolinemia
exact
hyperprolinemia caused by mutation in PRODH
exact
hyperprolinemia type 1
exact
hyperprolinemia, type I
related
proline oxidase deficiency
exact
SPCC70.03c