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Lesch-Nyhan syndrome

 

Lesch-Nyhan syndrome is a disorder that is passed down through families (inherited). It affects how the body builds and breaks down purines. Purines are a normal part of human tissue that help make up the body's genetic blueprint. They are also found in many different foods.

Causes

Lesch-Nyhan syndrome is passed down as an X-linked, or sex-linked trait. It occurs mostly in boys. People with this syndrome are missing or severely lacking an enzyme called hypoxanthine guanine phosphoribosyltransferase (HPRT). The body needs this substance to recycle purines. Without it, abnormally high levels of uric acid build up in the body.

Symptoms

 

Too much uric acid can cause gout-like swelling in some of the joints. In some cases, kidney and bladder stones develop.

People with Lesch-Nyhan have delayed motor development followed by abnormal movements and increased reflexes. A striking feature of Lesch-Nyhan syndrome is self-destructive behavior, including chewing off fingertips and lips. It is unknown how the disease causes these problems.

 

Exams and Tests

 

There may be a family history of this condition.

The health care provider will perform a physical exam. The exam may show:

  • Increased reflexes
  • Spasticity (having spasms)

Blood and urine tests may show high uric acid levels. A skin biopsy may show decreased levels of the HPRT1 enzyme.

 

Treatment

 

No specific treatment exists for Lesch-Nyhan syndrome. Medicine for treating gout can lower uric acid levels. However, treatment does not improve the nervous system outcome (for example, having increased reflexes and spasms).

Some symptoms may be relieved with these medicines:

  • Carbidopa/levodopa
  • Diazepam
  • Phenobarbital
  • Haloperidol

 

Outlook (Prognosis)

 

The outcome is likely to be poor. People with this syndrome usually need help walking and sitting. Most need a wheelchair.

 

Possible Complications

 

Severe, progressive disability is likely.

 

When to Contact a Medical Professional

 

Call your provider if signs of this illness appear in your child or if there is a history of Lesch-Nyhan syndrome in your family.

 

Prevention

 

Genetic counseling for prospective parents with a family history of Lesch-Nyhan syndrome is recommended. Testing can be done to see if a woman is a carrier of this syndrome.

 

 

References

Harris JC. Disorders of purine and pyrimidine metabolism. In: Kliegman RM, Stanton BF, St Geme JW, Schor NF, eds. Nelson Textbook of Pediatrics. 20th ed. Philadelphia, PA: Elsevier; 2016:chap 89.

Keenan RT, Nowatzky J, Pillinger MH. Etiology and pathogenesis of hyperuricemia and gout. In: Firestein GS, Budd RC, Gabriel SE, Mcinnes IB, O'Dell JR, eds. Kelley's Textbook of Rheumatology. 9th ed. Philadelphia, PA: Elsevier Saunders; 2012:chap 94.

Keenan RT, Nowatzky J, Pillinger MH. Etiology and pathogenesis of hyperuricemia and gout. In: Firestein GS, Budd RC, Gabriel SE, Mcinnes IB, O'Dell JR, eds. Kelley's Textbook of Rheumatology. 9th ed. Philadelphia, PA: Elsevier Saunders; 2012:chap 94.

 

        A Closer Look

         

          Talking to your MD

           

            Self Care

             

              Tests for Lesch-Nyhan syndrome

               

                 

                Review Date: 2/15/2016

                Reviewed By: Neil K. Kaneshiro, MD, MHA, Clinical Assistant Professor of Pediatrics, University of Washington School of Medicine, Seattle, WA. Also reviewed by David Zieve, MD, MHA, Isla Ogilvie, PhD, and the A.D.A.M. Editorial team.

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