hydroxyprolinemia


hydroxyprolinemia
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.

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hy·droxy·pro·lin·e·mia (hi-drok″se-pro″lĭ-neґme-ə) 1. excess of hydroxyproline in the blood. 2. 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; it may be associated with mental retardation. Called also hyperhydroxyprolinemia.

Medical dictionary. 2011.

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  • hyperhydroxyprolinemia — See hydroxyprolinemia. * * * hy·per·hy·droxy·pro·lin·e·mia (hi″pər hi drok″se pro″lĭ neґme ə) hydroxyprolinemia …   Medical dictionary

  • hydroxyproline oxidase — hy·droxy·pro·line ox·i·dase (hi drok″se proґlēn okґsĭ dās) an enzyme of the oxidoreductase class that catalyzes the oxidation of 4 hydroxyproline to form the 3 hydroxy analog of Δ1 pyrroline 5 carboxylate as part of the… …   Medical dictionary

  • υδροξυπρολιναιμία — η, Ν ιατρ. οικογενής διαταραχή τού μεταβολισμού τών αμινοξέων με υψηλές τιμές ελεύθερης οξυπρολίνης στο πλάσμα τού αίματος και στα ούρα. [ΕΤΥΜΟΛ. Αντιδάνεια λ., πρβλ. αγγλ. hydroxyprolinemia] …   Dictionary of Greek