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Lesch-Nyhan syndrome - Symptom

Symptoms:

The excess uric acid levels cause children to develop gout-like swelling in some of their joints. In some cases, kidney and bladder stones develops because of the high uric acid levels.

Males with Lesch-Nyhan have delayed motor development followed by bizarre, sinuous movements and increased deep tendon reflexes. A striking feature of Lesch-Nyhan syndrome is self-destructive behavior characterized by chewing off fingertips and lips, if not restrained. It is unknown how the enzyme deficiency causes these problems.

Signs and tests:

There may be a family history of this condition.

The doctor will perform a physical exam. The exam may show:

Overexaggerated reflexes
Spasticity

Blood and urine tests may reveal high uric acid levels. Askin biopsy may show decreased levels of the HGP enzyme.

Reviewed last on: 5/8/2008
Neil K. Kaneshiro, MD, MHA, Clinical Assistant Professor of Pediatrics, University of Washington School of Medicine. Also reviewed by David Zieve, MD, MHA, Medical Director, A.D.A.M., Inc.

References

Harris J. Disorders of Purine and Pyrimidine Metabolism.In: Kliegman RM, Behrman RE, Jenson HB, Stanton BF, eds. Nelson Textbook of Pediatrics. 18th ed. Philadelphia, Pa: Saunders Elsevier; 2007: Chap. 89.

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Lesch-Nyhan syndrome - Symptom

Symptoms:

Signs and tests:

References