hyperprolinemia

(redirected from hyperprolinaemia)

hyperprolinemia

 [hi″per-pro″lĭ-ne´me-ah]
a hereditary, usually benign aminoacidopathy marked by excessive proline in the blood.

hy·per·pro·li·ne·mi·a

(hī'pĕr-prō'li-nē'mē-ă), [MIM*239500 & MIM*239510]
A metabolic disorder characterized by enhanced plasma proline concentrations and urinary excretion of proline, hydroxyproline, and glycine; autosomal recessive inheritance. Type I hyperprolinemia is associated with a deficiency of proline oxidase and renal disease; type II hyperprolinemia is associated with a deficiency of pyrroline-5-carboxylate dehydrogenase, mental retardation, and convulsions and is caused by mutation in the pyrroline 5 carboxylate gene (P5CD) on 1p.

hyperprolinemia

(hī′pər-prō′lə-nē′mē-ə)
n.
Either of two hereditary conditions characterized by elevated proline concentrations in the blood and caused by enzyme deficiencies.

hy·per·pro·li·ne·mi·a

(hī'pĕr-prō'li-nē'mē-ă)
A metabolic disorder characterized by enhanced plasma proline concentrations and urinary excretion of proline, hydroxyproline, and glycine; autosomal recessive inheritance. Type I hyperprolinemia is associated with a deficiency of proline oxidase and renal disease; Type II hyperprolinemia is associated with a deficiency of Δ-pyrroline-5-carboxylate dehydrogenase, mental retardation, and convulsions and is caused by mutation in the δ-pyrroline 5 carboxylate gene (P5CD) on 1p.
Synonym(s): hyperprolinaemia.

hy·per·pro·li·ne·mi·a

(hī'pĕr-prō'li-nē'mē-ă) [MIM*239500 & 239510, MIM*239500 &]
A metabolic disorder characterized by enhanced plasma proline concentrations and urinary excretion of proline, hydroxyproline, and glycine.
Synonym(s): hyperprolinaemia.
References in periodicals archive ?
The severe form of type I hyperprolinaemia results from homozygous inactivation of the PRODH gene.
It has been recently hypothesised that prolidase deficiency may lead to mental retardation by the high amount of proline residues.35 Studies3637 suggest that hyperprolinaemia may be associated with schizophrenia and schizoaffective disorders.