A metabolic disorder characterized by enhanced plasma proline concentrations and urinary excretion of proline, hydroxyproline, and glycine; autosomal recessive inheritance. Type I h. is associated with a deficiency of proline oxidase and renal disease; Type II h. 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.

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hy·per·pro·lin·emia or chiefly Brit hy·per·pro·lin·ae·mia -.prō-lə-'nē-mē-ə n a hereditary metabolic disorder characterized by an abnormally high concentration of proline in the blood and often associated with mental retardation

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hy·per·pro·lin·emia (hi″pər-pro″lĭ-neґme-ə) 1. an autosomal recessive aminoacidopathy characterized by excessive proline in the body fluids; it is considered to be relatively benign, although neurologic abnormalities have been reported in some patients. There are two types, caused by different enzyme deficiencies: type I results from mutation in the proline oxidase gene (PRODH, locus: 22q11.2); type II results from mutation in the 1-pyrroline-5-carboxylate dehydrogenase gene (P5CDH,, locus: 1p36). 2. excess of proline in the blood; called also prolinemia.

Medical dictionary. 2011.

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