Laboratory for Molecular Diagnostics
Center for Nephrology and Metabolic Disorders
The disease is caused by a complete deficiency of the enzyme hypoxanthine phosphoribosyltransferase 1 encoded by the gene HPRT. The clinical picture is characterized by mental retardation, spastic cerebral palsy, choreoathetosis, uric acid urinary stones, and self-destructive biting of fingers and lips.
Uric acid nephropathy
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Hyperuricemic nephropathy
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Kelley-Seegmiller syndrome
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Lesch-Nyhan syndrome
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HPRT1
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Renal Hypouricemia
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| 1. |
Morton NE et al. (1977) Genetic epidemiology of Lesch-Nyhan disease. 
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| 2. |
Francke U et al. (1976) The occurrence of new mutants in the X-linked recessive Lesch-Nyhan disease.
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| 3. |
Nyhan WL et al. (1970) Hemizygous expression of glucose-6-phosphate dehydrogenase in erythrocytes of heterozygotes for the Lesch-Nyhan syndrome.
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| 4. |
Henderson JF et al. (1969) Inheritance of purine phosphoribosyltransferases in man.
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| 5. |
Ernst M et al. (1996) Presynaptic dopaminergic deficits in Lesch-Nyhan disease.
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| 6. |
Nyhan WL et al. (1996) New approaches to understanding Lesch-Nyhan disease.
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| 7. |
LESCH M et al. (1964) A FAMILIAL DISORDER OF URIC ACID METABOLISM AND CENTRAL NERVOUS SYSTEM FUNCTION.
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| 8. |
HOEFNAGEL D et al. (1965) HEREDITARY CHOREOATHETOSIS, SELF-MUTILATION AND HYPERURICEMIA IN YOUNG MALES.
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| 9. |
Yukawa T et al. (1992) A female patient with Lesch-Nyhan syndrome.
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| 10. |
Boyle JA et al. (1970) Lesch-Nyhan syndrome: preventive control by prenatal diagnosis.
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| 11. |
None (1997) The recognition of Lesch-Nyhan syndrome as an inborn error of purine metabolism.
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| 12. |
Hladnik U et al. (2008) Variable expression of HPRT deficiency in 5 members of a family with the same mutation.
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| 13. |
OMIM.ORG article Omim 300322
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| 14. |
Orphanet article Orphanet ID 510
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| 15. |
Wikipedia article Wikipedia EN (Lesch–Nyhan_syndrome)
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