Lesch-Nyhan syndrome
MONDO:0010298Lesch-Nyhan syndrome (LNS) is the most severe form of hypoxanthine-guanine phosphoribosyltransferase (HPRT) deficiency, a hereditary disorder of purine metabolism, and is associated with uric acid overproduction (UAO), neurological troubles, and behavioral problems.
Also known as: HPRT complete deficiency, HPRT deficiency grade IV, Lesch Nyhan Syndrome, Lesch-Nyhan syndrome, Lesch-Nyhan syndrome, X-linked recessive, X-linked hyperuricemia, X-linked hyperuricemia (disorder) [ambiguous], complete hypoxanthine-guanine phosphoribosyltransferase deficiency
1 clinical trial for this condition and its sub-types.
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Broader categories
Disease
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Metabolic disease
(233)
Hereditary disease
(176)
Inborn errors of metabolism
(45)
Syndromic disease
(25)
Human disease
(14)
Disease of genetic or genomic mechanism
(2)
Inborn disorder of purine or pyrimidine metabolism
(1)
Disease by body system or component
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Disease by developmental or physiological process
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