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Definitions for "Lesch-Nyhan syndrome"
Keywords:  hypoxanthine, mutilation, guanine, retardation, phosphoribosyltransferase
Related Terms: Angelman syndrome, Fragile x syndrome, Down syndrome, Phenylketonuria, Williams syndrome, Down's syndrome, Prader-willi syndrome, Hurler syndrome, Tay-sachs disease, Homocystinuria, Trisomy 13, Trisomy 18, Huntington disease, Trisomy 21, Birth defect, Mongolism, Tyrosinemia, Congenital abnormality, Genetic disorder, Pku, Klinefelter's syndrome, Galactosaemia, Turner syndrome, Inborn error of metabolism, Huntington's disease, Turner's syndrome, Birth defects, Congenital, Genetic disease, Congenital disorder, Dysmorphology, Tuberous sclerosis, Metabolic disorder, Marfan's syndrome, Ataxia telangiectasia, Alzheimer’s disease, Polydactyly, Fetal alcohol syndrome, Rett syndrome, Wilson's disease, Alzheimer's, Alzheimer's disease, Stickler syndrome, Organic brain syndrome, Microcephaly, Somatization disorder, Crouzon syndrome, Anodontia, Usher syndrome
Results from congenital deficiency of hypoxanthine guanine phosphoribosyl transferase (HGPRT) - resulting in hyperuricaemia. Causes gout (even in a baby), mental retardation and choreoathetosis.
ilar.org
This is a rare disease where mental retardation and self mutilation are common.
lieberson.com
The most common human hereditary defect in purine metabolism, due to a recessive gene on the long arm of the X chromosome. Disease is characterized by excessive production of uric acid, developmental and mental retardation, and death before sexual maturity.
research.arc2.ucla.edu
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