LND Famiglie Italiane ONLUS
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  For detailed information on the disease in English, it is best to refer to www.lesch-nyhan.org in which there are also news in French, Dutch, Spanish and Chinese
The disease

Lesch-Nyhan Syndrome is an inborn error in the metabolism of purines. It is caused by a deficency in the hypoxanthine-guanine phosphoribosiltransferase(HPRT). The enzime abnormality results from mutations in the gene in the long arm of the X chromosome. The expression is generally fully recessive, making this a disease virtually exclusively of males. However, a very few females have recently been diagnosed with the disease.
Sometimes the disease is misdiagnosed due to certain similarities to other brain disorders such as cerebral palsy. Appropriate laboratory tests must be conducted to assure an accurate diagnosis

The fully developed clinical picture is readily recognized, but the earliest presentation may be very subtle. The enzyme defect leads to massive accumulation of uric acid hyeruricemia and increases quantities of urinary urate. This result is often first manifested in collections of what looks like orange sand in the diaper. Hematuria may be an early sign, and patients have been presented with calculi or obstructive uropathy, even in early infancy.

Motor and neurologic development may be normal at first. In some, arching of the back or opisthotonos may occur early. There may be hypotonia or poor head control in the infant fails to sit unsupported. If this milestone had been attained, the infant loses the ability.

With time, muscle tone increases, and the full neurological picture is of spasticity. Involuntary movements are athetoid, choreic, or distonic. Deep tendon reflexes are increased. Intelligence is difficult to test adequately, but is clearly superior to motor development.

The disease is probably best known for its behavioural abnormalities. Lesch-Nyhan behaviour takes many forms, the most striking of which is self-injury through biting. The lips, the inside of the mouth and the fingers are favorite targets.

The diagnosis is often first suggested by the finding of an elevated concentration of uric acid in the blood. However, sometimes this can be elusive, either because of very efficient renal excretion or the use of adult normal values.
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