Gene/Protein Disease Symptom Drug Enzyme Compound
Pivot Concepts:   Target Concepts:
Query: EC:2.4.2.8 (hypoxanthine-guanine phosphoribosyltransferase)
 2,527 document(s) hit in 31,850,051 MEDLINE articles (0.00 seconds)

Lesch-Nyhan syndrome is an X-linked recessive inborn error of metabolism due to a virtually complete lack of hypoxanthine-guanine phosphoribosyltransferase (HPRT) activity (OMIM 300322). Partial deficiency of HPRT (OMIM 300323) is characterized by the effects of excess uric acid synthesis and a continuum spectrum of neurological manifestations, without the manifestations of full-blown Lesch-Nyhan syndrome. Both diseases have been associated with mutations in the HPRT gene. These mutations are heterogeneous and disperse throughout the entire HPRT gene. In 2005 Dawson et al. described, for the first time, an individual with gout in whom HPRT deficiency appeared to be due to a defect in gene regulation. In the present study we present four patients with partial HPRT deficiency and one patient with Lesch-Nyhan syndrome who showed a normal HPRT coding sequence and markedly decreased HPRT mRNA expression. This is the first report of a patient with Lesch-Nyhan syndrome due to a defect in HPRT gene expression regulation.
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PMID:Normal HPRT coding region in complete and partial HPRT deficiency. 1831 17