Lesch-Nyhan syndrome : Symptoms, Diagnosis & Tests

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You are here : AllRefer.com > Health > Diseases & Conditions > Lesch-Nyhan syndrome : Symptoms, Diagnosis & Tests

Lesch-Nyhan syndrome

Symptoms & Signs

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

Diagnosis & 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. A skin biopsy may show decreased levels of the HGP enzyme.

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Lesch-Nyhan syndrome : Definition
Lesch-Nyhan syndrome : Overview, Causes, & Risk Factors
Lesch-Nyhan syndrome : Symptoms & Signs
Lesch-Nyhan syndrome : Diagnosis & Tests
Lesch-Nyhan syndrome : Treatment
Lesch-Nyhan syndrome : Prognosis (Expectations)
Lesch-Nyhan syndrome : Complications
Lesch-Nyhan syndrome : Calling Your Health Care Provider
Lesch-Nyhan syndrome : Prevention
Lesch-Nyhan syndrome : References

Review Date : 5/8/2008
Reviewed By : 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.

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