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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.
Sex-linked trait
Genetics is the study of heredity, the process of a parent passing certain genes to their children. A person's appearance -- height, hair color, ski...
Uric acid
Uric acid is a chemical created when the body breaks down substances called purines. Purines are found in some foods and drinks. These include live...
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)
Spasticity
Spasticity is stiff or rigid muscles. It may also be called unusual tightness or increased muscle tone. Reflexes (for example, a knee-jerk reflex) ...
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Blood and urine tests may show high uric acid levels. A skin biopsy may show decreased levels of the HPRT1 enzyme.
Skin biopsy
A skin lesion biopsy is when a small amount of skin is removed so it can be examined. The skin is tested to look for skin conditions or diseases. A...
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.
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.
