Molekulargenetische Diagnostik
Praxis Dr. Mato Nagel

Lesch-Nyhan-Syndrom

Die Krankheit beruht auf einem vollständigen Mangel der Aktivität dez Enzyms Hypoxanthin-Guanine-Phosphoribosyltransferase 1, welches vom Gen HPRT1 kodiert wird. Das klinische Bild besteht in einer mentalen Retardierung, einer spastischen zerebralen Paralyse, Harnsäuresteinen und einem autoaggressiven Verhalten mit Beißen auf Finger und Lippen.

Gliederung

Uratnephropathie
Hyperuricämische Nephropathie
Kelley-Seegmiller-Syndrom
Lesch-Nyhan-Syndrom
HPRT1
Renale Hypourikämie

Referenzen:

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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