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.

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.

hydroxyprolinemia

/hy·droxy·pro·lin·e·mia/ (-pro″lĭ-ne´me-ah)
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.

hydroxyprolinemia

Molecular medicine An AR condition caused by hydroxyproline oxidase deficiency Clinical Profound mental retardation Lab ↑ Hydroxyproline in serum, urine
References in periodicals archive ?
Furthermore, the currently employed MS/MS determination of BCAA in dried blood spots fails to differentiate between increased concentrations of the isobaric amino acids allo-Ile, Ile, Leu, and hydroxyproline (OH-Pro) (4), the latter of which is increased in the benign biochemical condition of hydroxyprolinemia (OMIM 23700).
Therefore, infants with hydroxyprolinemia, a clinically benign biochemical trait, or infants with high levels of BCAAs owing to total parenteral nutrition may be subject to unnecessary follow-up to rule out MSUD.