Lesch – Nyhan syndrome

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Causes of Lesch – Nyhan syndrome

X-linked recessive to enzyme defect affecting purine metabolism. Excessive uric acid production and excretion. Gene on short arm of chromosome q26-27

Signs and Symptoms of Lesch – Nyhan syndrome

Almost all are normal at birth. Development of choreoathetoid movements, scissors position of legs, and self-multilation of lips and fingers.

Information on Lesch – Nyhan syndrome

Diagnosed prenatally, by sampling amniotic fluid and enzyme estimation. Postnatal diagnosis by enzyme estimation in hair roots. Death in early adult life. Self-multilation may be reduced by treatment with hydroxytryptophan

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Site last updated: March 4, 2008