Lesch-Nyhan syndrome

Lesch-Nyhan syndrome
Definition
Lesch-Nyhan syndrome is an inheritable disorder that affects how the body builds and breaks down purines. Purines are a normal part of human tissue and help make up the body's genetic blueprint.

Lesch-Nyhan Syndrome
Home
Lesch-Nyhan Syndrome
The more you know about your health, the better prepared you are to make informed healthcare decisions. Our health library gives you the information you need to take charge of your health.

NINDS Lesch-Nyhan Syndrome Information Page
Skip secondary menu
Home
Disorders A - Z ...

What is Lesch-Nyhan syndrome?
Lesch-Nyhan syndrome is a condition characterized by the overproduction and accumulation of uric acid, a waste product of normal chemical processes that is found in blood and urine.

Lesch-Nyhan syndrome
Results from congenital deficiency of hypoxanthine guanine phosphoribosyl transferase (HGPRT) - resulting in hyperuricaemia. Causes gout (even in a baby), mental retardation and choreoathetosis.

Definition Lesch-Nyhan syndrome is a rare genetic disorder that affects males. Males with this syndrome develop physical handicaps, mental retardation, and kidney problems. It is caused by a total absence of an enzyme.

Kelley-Seegmiller syndrome or Lesch-Nyhan syndrome, two rare conditions in which the enzyme that helps control uric acid levels either is not present or is found in insufficient quantities.

Exotoxins, Ganglioside GM3, Glioblastoma Multiforme, Human 4F2 Cell-Surface Antigen, Hydroxylase, Peptidyl Prolyl, IL2 Receptor, Instillation, Drug, Interferon Type II, Ox Lymphocyte Protein Moiety, Jaw, Killed Vaccines, Lesch-Nyhan Syndrome, ...

Two of the patients had Lesch-Nyhan syndrome, which is characterized by excessive uric acid production combined with a deficiency of the enzyme, hypoxanthineguanine phosphoribosyltransferase (HGPRTase).

Larsen syndrome ... osteoarthritis
Lead poisoning ... joint pain
Lesch-Nyhan syndrome ... gouty arthritis
Lupus ... Arthritis
Lyme disease ... arthritis, permanent joint damage, chronic arthritis
Lymphocytic Choriomeningitis ... arthritis ...

Lesch-Nyhan syndrome
leukocyte-adhesion deficiency syndrome
Lev's syndrome
Libman-Sacks syndrome
Li-Fraumeni cancer syndrome
Li-Fraumeni syndrome
Lignac-Fanconi syndrome
lindau-von hippel syndrome
liver kidney syndrome
locked-in syndrome ...

Laryngeal cancer
Legionnaire's disease
Leptospirosis
Lesch-Nyhan syndrome ...

Cancers that have spread (metastasized)
Disorders that affect the bone marrow or certain white blood cells
High-purine diet
Gout
Rhabdomyolysis
Lesch-Nyhan syndrome
Fanconi syndrome ...

Syringomyelia (a disorder where cysts form on the spinal cord)
Tourette syndrome (a neurological disorder)
Autism (a disorder that results in social, behavioral, and language problems)
Lesch-Nyhan syndrome (a genetic disorder) ...

In most cases, the cause is unknown, but a few cases are attributable to enzyme abnormalities; deficiency of hypoxanthine-guanine phosphoribosyltransferase (complete deficiency is Lesch-Nyhan syndrome) is a possible cause, ...

This painful disorder is called gout. Other causes of uric acid stones include chemotherapy for cancer; certain bone marrow disorders in which blood cells are overproduced; and an inherited disorder called Lesch-Nyhan syndrome.

Dihydropyrimidine dehydrogenase deficiency - Hyperuricemia - Lesch-Nyhan syndrome - Purine nucleoside phosphorylase deficiency - Xanthinuria
Porphyrin ...

See also: Deficiency, Cancer, Trauma, Arthritis, Fever