Clinical feature: 

Definition: 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.

Diagnostics: 

Differential: Kelley-Seegmiller syndrome results if the enzyme activity is incompletely deficient. This syndrome has mere hyperurecemia and its complications gout and uric acid nephropathy.  » » » 
   Uric acid nephropathy in patients with renal hypouricemia is the result of excessive renal excretion, and therefore may be distinguished by low plasma levels of uric acid.  » » » 
   Hyperuricemia also occurs in medullary cystic kidney diesease. The criteria that help to differentiate are the autosomal dominant pattern of inheritance and medullary cysts.  » » » 

Literature: 

Boyle JA et al. (1970) Lesch-Nyhan syndrome: preventive control by prenatal diagnosis.
Ernst M et al. (1996) Presynaptic dopaminergic deficits in Lesch-Nyhan disease.
Francke U et al. (1976) The occurrence of new mutants in the X-linked recessive Lesch-Nyhan disease.
Henderson JF et al. (1969) Inheritance of purine phosphoribosyltransferases in man.
Hladnik U et al. (2008) Variable expression of HPRT deficiency in 5 members of a family with the same mutation.
HOEFNAGEL D et al. (1965) HEREDITARY CHOREOATHETOSIS, SELF-MUTILATION AND HYPERURICEMIA IN YOUNG MALES.
LESCH M et al. (1964) A FAMILIAL DISORDER OF URIC ACID METABOLISM AND CENTRAL NERVOUS SYSTEM FUNCTION.
Morton NE et al. (1977) Genetic epidemiology of Lesch-Nyhan disease.
Nyhan WL et al. (1997) The recognition of Lesch-Nyhan syndrome as an inborn error of purine metabolism.
Nyhan WL et al. (1970) Hemizygous expression of glucose-6-phosphate dehydrogenase in erythrocytes of heterozygotes for the Lesch-Nyhan syndrome.
Nyhan WL et al. (1996) New approaches to understanding Lesch-Nyhan disease.
Yukawa T et al. (1992) A female patient with Lesch-Nyhan syndrome.