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What is Lesch-Nyhan syndrome?
- Lesch-Nyhan syndrome: Introduction
- Types of Lesch-Nyhan syndrome
- Prognosis
- Complications
- Prevalence
- Other names for Lesch-Nyhan syndrome
- What causes Lesch-Nyhan syndrome?
- What are the symptoms of Lesch-Nyhan syndrome?
- Can anyone else get Lesch-Nyhan syndrome?
- How is it treated?
- Lesch-Nyhan syndrome: Introduction
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
Lesch-Nyhan syndrome: Introduction
Types of Lesch-Nyhan syndrome:
Broader types of Lesch-Nyhan syndrome:
- Genetic Disease
- more types...»
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: see causes of 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)
What are the symptoms of Lesch-Nyhan syndrome?
Symptoms of Lesch-Nyhan syndrome: see symptoms of Lesch-Nyhan syndrome
Complications of Lesch-Nyhan syndrome: see complications 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.
Lesch-Nyhan syndrome: Testing
Diagnostic testing: see tests for Lesch-Nyhan syndrome.
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
Name and Aliases of Lesch-Nyhan syndrome
Main name of condition: Lesch-Nyhan syndrome
Class of Condition for Lesch-Nyhan syndrome: genetic
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)
» Next page: Prevalence and Incidence of Lesch-Nyhan syndrome
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