hyperprolinemia

(redirected from hyperprolinaemia)

hyperprolinemia

 [hi″per-pro″lĭ-ne´me-ah]
a hereditary, usually benign aminoacidopathy marked by excessive proline in the blood.
Miller-Keane Encyclopedia and Dictionary of Medicine, Nursing, and Allied Health, Seventh Edition. © 2003 by Saunders, an imprint of Elsevier, Inc. All rights reserved.

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.
Farlex Partner Medical Dictionary © Farlex 2012

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.
The American Heritage® Medical Dictionary Copyright © 2007, 2004 by Houghton Mifflin Company. Published by Houghton Mifflin Company. All rights reserved.

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.
Medical Dictionary for the Health Professions and Nursing © Farlex 2012

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.
Medical Dictionary for the Dental Professions © Farlex 2012
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.