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Lesch-Nyhan syndrome

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Name:
Lesch-Nyhan syndrome
Description:
Lesch-Nyhan syndrome (LNS) is the most severe form of hypoxanthine-guanine phosphoribosyltransferase (HPRT) deficiency (see this term), a hereditary disorder of purine metabolism, and is associated with uric acid overproduction (UAO), neurological troubles, and behavioral problems.
ORPHAcode:
510
Synonyms:
HPRT complete deficiency
HPRT deficiency grade IV
Hypoxanthine guanine phosphoribosyltransferase complete deficiency
Hypoxanthine guanine phosphoribosyltransferase deficiency, grade IV
XREF(s):
Orphanet
MeSH
MedDRA
OMIM
OMIM
ICD-10
Analyte(s):
HPRT1
Created:
13 May 2019 - 01:02
Changed:
22 Jun 2023 - 16:14