Lesch-Nyhan Syndrome Information

Ian C. Langtree - Writer/Editor for Disabled World (DW)
Published: 2009/04/04 - Updated: 2023/01/29
Topic: Pediatric Disabilities - Publications List

Page Content: Synopsis - Introduction - Main

Synopsis: Lesch-Nyhan syndrome (LNS) is a rare inherited disorder caused by a deficiency of the enzyme hypoxanthine-guanine phosphoribosyltransferase. LNS is an X-linked recessive disease - the mother carries the gene and passes it on to her son. LNS is present at birth in baby boys (females are carriers of the gene).

Introduction

Lesch-Nyhan syndrome (LNS) is a rare, inherited disorder caused by a deficiency of the enzyme hypoxanthine-guanine phosphoribosyltransferase (HPRT). Alternate Names: Hereditary Hyperuricemia and Choreoathetosis Syndrome, Hyperuricemia Choreoathetosis-Self mutilation Syndrome, Hyperuricemia-Oligophrenia, Hypoxanthine-Guanine Phosphoribosyltranferase Deficiency (HGPRT), Hypoxanthine phosphoribosyltransferase Deficiency (HPRT), Juvenile Gout-Choreoathetosis and Mental Retardation Syndrome, Lesch Nyhan Disease, Nylan Syndrome.

The U.S. Social Security Administration (SSA) has included Lesch-Nyhan Syndrome (LNS) as a Compassionate Allowance to expedite a disability claim.

Focus

LNS is an X-linked recessive disease - the gene is carried by the mother and passed on to her son. LNS is present at birth in baby boys (females are carriers of the gene).

The lack of HPRT causes a build-up of uric acid in all body fluids and leads to severe gout, poor muscle control, and moderate retardation, which appear in the first year of life. Hypotonia and delayed motor milestones are usually evident by three to six months of age.

The motor disability is so severe that virtually all children with LNS never walk and are confined to a wheelchair.

Symptoms

Neurological signs include facial grimacing, involuntary writhing, and repetitive movements of the arms and legs similar to those seen in Huntington's disease.

A striking feature of LNS is self-mutilating behaviors - lip and finger biting - that begin in the second year of life.

Because a lack of HPRT causes the body to utilize vitamin B12 poorly, some boys may develop a rare disorder called megaloblastic anemia.

Molecular genetic testing is the most effective testing method, as HPRT1 is the only gene associated with LNS.

Individuals who display the full Lesch-Nyhan phenotype all have mutations in the HPRT1 gene. Some consider the definitive confirmatory test to be the results of HPRT enzyme activity of less than 1.5% of normal blood or other type tissue cells.

Treatment

Treatment for LNS is symptomatic.

Gout can be treated with allopurinol to control excessive amounts of uric acid. Kidney stones may be treated with lithotripsy, a technique for breaking up kidney stones using shock waves or laser beams.

There is no standard treatment for the neurological symptoms of LNS. Some may be relieved with carbidopa/levodopa, diazepam, phenobarbital, or haloperidol.

The prognosis for individuals with LNS is poor. Death usually occurs in the first or second decade of life.

Author Credentials: Ian is an Australian-born writer, editor, and advocate who currently resides in Montreal, Canada. He is the founder and Editor-in-Chief of Disabled World, a leading resource for news and information on disability issues. With a global perspective shaped by years of travel and lived experience, Ian is a committed proponent of the Social Model of Disability-a transformative framework developed by disabled activists in the 1970s that emphasizes dismantling societal barriers rather than focusing solely on individual impairments. His work reflects a deep commitment to disability rights, accessibility, and social inclusion. To learn more about Ian's background, expertise, and accomplishments, visit his full biography.

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Citing and References

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Cite This Page: Disabled World. (2009, April 4 - Last revised: 2023, January 29). Lesch-Nyhan Syndrome Information. Disabled World (DW). Retrieved May 13, 2025 from www.disabled-world.com/health/pediatric/lesch-nyhan-syndrome.php

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