HPRTmangel
HPRTmangel is the term used in German-language medical literature for hypoxanthine-guanine phosphoribosyltransferase (HPRT) deficiency, a hereditary metabolic disorder caused by mutations in the HPRT1 gene on the X chromosome. The condition disrupts the purine salvage pathway, leading to decreased recycling of purines and an imbalance of purine metabolism.
Biochemical basis and genetics: HPRT is an enzyme that recycles purines to their nucleotide forms. Deficiency
Clinical features: Classic HPRT deficiency, often described as Lesch-Nyhan syndrome in English-language sources, includes hyperuricemia and
Diagnostic approach: Diagnosis is based on low or absent HPRT activity in red blood cells or leukocytes,
Management: There is no cure. Treatment focuses on lowering uric acid levels with medications such as allopurinol,
History and terminology: The condition was first described in the 1960s by Lesch and Nyhan; in German-language