Disease or Syndrome
hydroxyprolinemia
Definitions related to hydroxyprolinemia:
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An increased concentration of hydroxyproline in the blood.Human Phenotype Ontology (HPO)The Human Phenotype Ontology Project, 2021
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Hydroxyproline is an imino acid normally present in human plasma. It is derived primarily from endogenous collagen turnover and the breakdown of dietary collagen. The finding of elevated (5- to 10-fold increase from the normal of less than 50 micromoles) serum hydroxyproline is thought to be an inherited defect in the catabolism of hydroxyproline. (OMIM)Online Mendelian Inheritance in ManJohns Hopkins University, 2021
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Hydroxyprolinemia is an inherited metabolic condition characterized by elevated levels of the amino acid hydroxyproline in the blood and urine. This condition usually does not cause physical or cognitive abnormalities. Hydroxyprolinemia was initially described in association with intellectual disabilities; however it has also been...National Center for Advancing Translational Sciences
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