Lesch-Nyhan Syndrome Information

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.

Main Item

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.

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Cite This Page (APA): Langtree, I. C. (2009, April 4 - Last revised: 2023, January 29). Lesch-Nyhan Syndrome Information. Disabled World. Retrieved September 19, 2024 from www.disabled-world.com/health/pediatric/lesch-nyhan-syndrome.php

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