Lesch-Nyhan syndrome

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Lesch-Nyhan syndrome2016-11-26T21:22:21+00:00

Lesch-Nyhan syndrome

METABOLISM, NEPHROLOGY

Definition An X-linked disorder (OMIM:300322) of purine metabolism caused by a deficiency of hypoxanthine phosphoribosyltransferase—HPRT, and characterized by a virtually complete (< 1.5%) lack of HPRT activity, resulting in hyperuricemia, uric acid renal stones, mental retardation, spasticity, choreoathetosis, and compulsive self-mutilation of fingers and lips by biting and, in some cases, megaloblastic anaemia.

Molecular pathology Defects of HPRT1, which encodes hypoxanthine phosphoribosyltransferase, an enzyme that is critical for purine metabolism. 

Synonyms Choreoathetosis-self mutilation syndrome, congenital hyperuricemia, hereditary hyperuricemia, HGPRT deficiency, HPRT deficiency, HPRT deficiency—neurologic variant (included), HPRT1 deficiency, hyperuricemia-oligophrenia, hyperuricemia—choreoathetosis—self-mutilation syndrome, hypoxanthine-guanine phosphoribosyltransferase deficiency, hypoxanthine phosphoribosyl transferase deficiency, juvenile gout, Lesch-Nyhan disease, LNS, Nyhan syndrome, uric acid disorder-oligophrenia, X-linked hyperuricemia 

References http://www.uniprot.org/uniprot/P00492

http://www.omim.org/entry/300322  

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