What is Lesch-Nyhan syndrome?

What is 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.
• 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

Name and Aliases of Lesch-Nyhan syndrome

Main name of condition: Lesch-Nyhan syndrome

Hypoxanthine guanine phosphoribosyltransferase deficiency, LNS, HPRT deficiency, HPRT1 deficiency, HPRT deficiency, complete, Hypoxanthine guanine phosphoribosyltransferase 1 deficiency

Hypoxanthine-guanine phosphoribosyltranferase deficiency Source - Diseases Database

HPRT deficiency, HPRT deficiency, complete, HPRT1 deficiency, Hypoxanthine guanine phosphoribosyltransferase 1 deficiency, LNS, HPRT deficiency, HPRT deficiency, complete, HPRT1 deficiency, Hypoxanthine guanine phosphoribosyltransferase 1 deficiency, LNS
Source - Office of Rare Diseases (ORD) of the National Institutes of Health (NIH)

Types of Lesch-Nyhan syndrome:

Parent types of Lesch-Nyhan syndrome: Genetic Disease

How many people get Lesch-Nyhan syndrome?

Prevalance of Lesch-Nyhan syndrome: 1 per 380,000 people are affected by Lesch-Nyhan syndrome worldwide, Genetics Home Reference website
Prevalance Rate of Lesch-Nyhan syndrome: approx 1 in 380,000 or 0.00% or 715 people in USA [about data]

How serious is Lesch-Nyhan syndrome?

Complications of Lesch-Nyhan syndrome: see complications of Lesch-Nyhan syndrome

What causes Lesch-Nyhan syndrome?

Causes of Lesch-Nyhan syndrome: These raw materials are called purines, and they are an essential part of DNA and RNA. The body can either make purines (de novo synthesis) or recycle them (the resalvage pathway). Many enzymes are involved in these pathways. When one of these enzymes is missing, a wide range of problems can occur. (Source: Genes and Disease by the National Center for Biotechnology)
Class of Condition for Lesch-Nyhan syndrome: genetic
Causes of Lesch-Nyhan syndrome: see causes of Lesch-Nyhan syndrome

Can anyone else get Lesch-Nyhan syndrome?

Contagion of genetic conditions: generally not; see details in contagion of genetic diseases.
Inheritance: see inheritance of Lesch-Nyhan syndrome

Inheritance of genetic conditions: see details in inheritance of genetic diseases.

How is it treated?

Treatments for Lesch-Nyhan syndrome: see treatments for Lesch-Nyhan syndrome
Research for Lesch-Nyhan syndrome: see research for Lesch-Nyhan syndrome