hyperprolinemia

(redirected from Proline oxidase deficiency)

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

/hy·per·pro·lin·emia/ (-pro″lĭ-ne´me-ah)
1. any of several benign aminoacidopathies marked by an excess of proline in the body fluids.
2. excess of proline in the blood.

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.

hyperprolinemia

[hī′pərprō′linē′mē·ə]
an autosomal-recessive aminoacidopathy characterized by an excess of proline in the body fluids and occurring as two types, I and II, each of which is caused by deficiency in a different enzyme involved in proline metabolism. Type 1 is associated with renal disease and type 2 with mental retardation and convulsions.

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.
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