Lesch-Nyhan syndrome

Introduction: Lesch-Nyhan syndrome

Lesch-Nyhan syndrome: Lesch-Nyhan syndrome (LNS) is a rare inherited disease that disrupts the metabolism of the raw material of genes. (Source: Genes and Disease by the National Center for Biotechnology) ... more about Lesch-Nyhan syndrome.

Lesch-Nyhan syndrome: Inherited biochemical disorder of purine metabolism caused by the virtual absence of an enzyme called hypoxanthine-guanine phosphoribosyltransferase or HPRT. More detailed information about the symptoms, causes, and treatments of Lesch-Nyhan syndrome is available below.

Symptoms of Lesch-Nyhan syndrome

• Mental retardation
• Physical disabilities
• Self mutilation
• Orange sand-like substance in nappy of infant
• Irritability in infant

See full list of 21 symptoms of Lesch-Nyhan syndrome

Diagnostic Tests for Lesch-Nyhan syndrome

• Blastomere analysis before implantation (BABI) - in vitro fertilization test for various genetic conditions (under research); also called "preimplantation diagnosis".

Read more about tests for Lesch-Nyhan syndrome

Causes of Lesch-Nyhan syndrome

Read more about causes of Lesch-Nyhan syndrome.

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Patient Surveys for Lesch-Nyhan syndrome

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Reseach about Lesch-Nyhan syndrome

Visit our research pages for current research about Lesch-Nyhan syndrome treatments.

Clinical Trials for Lesch-Nyhan syndrome

The US based website ClinicalTrials.gov lists information on both federally and privately supported clinical trials using human volunteers.

Some of the clinical trials listed on ClinicalTrials.gov for Lesch-Nyhan syndrome include:

• Phase II Pilot Study of Aminoimidazole Carboxamide Riboside (AICAR), a Precursor of Purine Synthesis, for Lesch-Nyhan Disease - This study has been completed (Current: 23 Nov 2006) - aminomidazole carboxamide riboside

Read more about Clinical Trials for Lesch-Nyhan syndrome

Statistics for Lesch-Nyhan syndrome

• Medical statistics for Lesch-Nyhan syndrome
• Prevalence and incidence statistics for Lesch-Nyhan syndrome
• Death and Mortality statistics for Lesch-Nyhan syndrome
• Society statistics for Lesch-Nyhan syndrome

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Article Excerpts about Lesch-Nyhan syndrome

Lesch-Nyhan syndrome (LNS) is a rare inherited disease that disrupts the metabolism of the raw material of genes. (Source: Genes and Disease by the National Center for Biotechnology)

Definitions of Lesch-Nyhan syndrome:

An inborn error of metabolism resulting from a deficiency of hypoxanthine-guanine phosphoribosyltransferase (EC 2.4.2.8) with increased conversion of glycine to uric acid with excessive purine synthesis and hyperuricemia. Patients are normal at birth but begin to show hypertonicity at about 4 months and irritability and other neurological symptoms become apparent during the second year of life, the child becoming gradually more aggressive and self-destructive, banging his head, biting the lower lip and, less commonly, the upper lip, cheeks, fingers, and hands, sometimes using the fingers to mutilate his ears and nose. Associated disorders include spastic cerebral palsy, choreoathetosis, renal uric acid calculi, gouty tophi, and uric acid nodules. Mental retardation is common but normal intelligence occurs in some cases. - (Source - Diseases Database)

Lesch-Nyhan syndrome is listed as a "rare disease" by the Office of Rare Diseases (ORD) of the National Institutes of Health (NIH). This means that Lesch-Nyhan syndrome, or a subtype of Lesch-Nyhan syndrome, affects less than 200,000 people in the US population.
Source - National Institutes of Health (NIH)

Ophanet, a consortium of European partners, currently defines a condition rare when it affects 1 person per 2,000. They list Lesch-Nyhan syndrome as a "rare disease".
Source - Orphanet