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Abnormal "hypoxanthine-guanine" phosphoribosyltransferase level
- ... are missing or severely lacking an enzyme called hypoxanthine guanine phosphoribosyltransferase (HPRT). The body needs this substance to recycle purines. Without it, abnormally high levels of uric acid build up in the body.
- ... uric acid. For unknown reasons, a deficiency of hypoxanthine phosphoribosyltransferase 1 is associated with low levels of a chemical messenger in the brain called ...