hyperprolinemia


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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 ?
Evidence for association of hyperprolinemia with schizophrenia and a measure of clinical outcome.
Therefore, since hyperprolinemia provokes deficits in spatial memory in rats, the aim of the present study was to investigate the effects of chronic hyperprolinemia on the ability of rats to recognize objects (using a test of non-spatial memory), as well as its effects on AChE activity in the hippocampus and cerebral cortex of rats.
Effect of chronic hyperprolinemia on a test of non-spatial memory
Effect of chronic hyperprolinemia on the open field test
Studies using this experi-mental model of hyperprolinemia showed that Pro impairs memory (Bavaresco et al., 2005), induces free radical generation and reduces antioxidant defenses in rat cerebrum, suggesting that Pro elic-its oxidative stress (Delwing et al., 2003a, Delwing et al., 2003c).
In the present study, we investigate the effect of chronic hyperprolinemia on a test of non-spatial memory in order to assess long-and short-term memory.
Since ACh is an important neurotransmitter involved in the mechanisms of memory, we also verified the effect of chronic hyperprolinemia on AChE activity in the hippocampus and cerebral cortex of rats sacrificed at 3 hours, 12 hours, and 30 days after the last injection of Pro.
Furthermore, based on these data and on our results showing that chronic hyperprolinemia increases AChE activity at 30 days after the last injection of Pro, we may expect that the constant stimulation of this enzyme by Pro or its metabolites might decrease ACh levels, which could be associated with memory deficits observed in hyperprolinemic rats.
IS, internal standard; NA, not applied; Ile, isoleucine; TYR, tyrosinemia; MSUD, maple syrup urine disease; HCYS, homocystinuria; NKG, nonketotic hyperglycinemia; ASD, argininosuccinic acid synthetase deficiency; ALD, argininosuccinase deficiency; PYG/PIP, pyroglutamic/pipecolic acidemia; PRO, hyperprolinemia. Table 2.