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.

单词	hyperprolinemia
释义	hyperprolinemia 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), [MIM239500 & MIM239510] 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) [MIM239500 & 239510, MIM239500 &] A metabolic disorder characterized by enhanced plasma proline concentrations and urinary excretion of proline, hydroxyproline, and glycine. Synonym(s): hyperprolinaemia.
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