Skip to Content
Medical Term:

hydroxyprolinemia

Pronunciation: hi-drok'se-pro'li-ne'me-a

Definition: 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.

© Copyright 2016 Wolters Kluwer. All Rights Reserved. Review Date: Sep 19, 2016.
Hide