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.
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
hydroxyprolinemiaMolecular 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.