Laboratory for Molecular Diagnostics
Center for Nephrology and Metabolic Disorders

Lesch-Nyhan syndrome

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.

Systematic

Uric acid nephropathy
Hyperuricemic nephropathy
Kelley-Seegmiller syndrome
Lesch-Nyhan syndrome
HPRT1
Renal Hypouricemia

References:

1.

Francke U et al. (1976) The occurrence of new mutants in the X-linked recessive Lesch-Nyhan disease.

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2.

LESCH M et al. (1964) A FAMILIAL DISORDER OF URIC ACID METABOLISM AND CENTRAL NERVOUS SYSTEM FUNCTION.

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3.

HOEFNAGEL D et al. (1965) HEREDITARY CHOREOATHETOSIS, SELF-MUTILATION AND HYPERURICEMIA IN YOUNG MALES.

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4.

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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5.

Henderson JF et al. (1969) Inheritance of purine phosphoribosyltransferases in man.

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6.

Ernst M et al. (1996) Presynaptic dopaminergic deficits in Lesch-Nyhan disease.

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7.

Nyhan WL et al. (1996) New approaches to understanding Lesch-Nyhan disease.

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8.

Morton NE et al. (1977) Genetic epidemiology of Lesch-Nyhan disease.

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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.

Nyhan WL et al. (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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Update: Sept. 26, 2018