hydroxyprolinemia /hy·droxy·pro·lin·e·mia/ (-pro″lĭ-ne´me-ah)
hydroxyprolinemia [hi-drok″se-pro″lēn-e´me-ah]
hydroxyprolinemia
1. excess of hydroxyproline in the blood.
2. a disorder of amino acid metabolism characterized by an excess of free hydroxyproline in the plasma and urine, due to a defect in the enzyme hydroxyproline oxidase; it may be associated with mental retardation.
hy·drox·y·pro·li·ne·mi·a (h -dr k s -pr  l -nm- )n. An inherited metabolic disorder characterized by high hydroxyproline concentrations in plasma and urine and severe mental retardation. |
hydroxyprolinemia [hi-drok″se-pro″lēn-e´me-ah]
an autosomal recessive aminoacidopathy characterized by an excess of free hydroxyproline in the plasma and urine, due to a defect in the enzyme hydroxyproline oxidase.
hydroxyprolinemia
Molecular medicine An AR condition caused by hydroxyproline oxidase deficiency Clinical Profound mental retardation Lab ↑ Hydroxyproline in serum, urine
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