Medical term:

hydroxyprolinemia


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.
Miller-Keane Encyclopedia and Dictionary of Medicine, Nursing, and Allied Health, Seventh Edition. © 2003 by Saunders, an imprint of Elsevier, Inc. All rights reserved.

hy·drox·y·pro·li·ne·mi·a

(hī-drok'sē-prō'li-nē'mē-ă), [MIM*237000]
A metabolic disorder characterized by mental retardation and microscopic hematuria in some patients; associated with enhanced plasma concentration and urinary excretion of free hydroxyproline because of a deficiency of hydroxyproline oxidase; autosomal recessive inheritance.
Farlex Partner Medical Dictionary © Farlex 2012

hydroxyprolinemia

Molecular medicine An AR condition caused by hydroxyproline oxidase deficiency Clinical Profound mental retardation Lab ↑ Hydroxyproline in serum, urine
McGraw-Hill Concise Dictionary of Modern Medicine. © 2002 by The McGraw-Hill Companies, Inc.

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