Lesch-Nyhan syndrome
Lesch-Nyhan syndrome (LNS) is a rare, inherited genetic disorder associated with a deficiency of the enzyme hypoxanthine-guanine phosphoribosyltransferase (HGPRT). This disorder was first described by medical student Michael Lesch and his mentor, William Nyhan, in 1964.
Overview[edit | edit source]
LNS is characterized by uric acid overproduction (hyperuricemia), neurological disabilities, and behavioral abnormalities. It is caused by mutations in the HPRT1 gene, which provides instructions for producing the enzyme HGPRT. This enzyme plays a key role in the purine salvage pathway, which recycles purines from old DNA and RNA molecules to make new ones.
Symptoms[edit | edit source]
The symptoms of LNS typically become apparent in the first year of life. The most common symptoms include involuntary muscle movements, such as tremors, dystonia, and choreoathetosis. Affected individuals may also exhibit self-mutilating behaviors, such as lip and finger biting.
Diagnosis[edit | edit source]
Diagnosis of LNS is based on clinical features, biochemical testing of uric acid levels, and molecular genetic testing of the HPRT1 gene.
Treatment[edit | edit source]
There is currently no cure for LNS. Treatment is symptomatic and supportive, focusing on managing the neurological and behavioral aspects of the disorder. Medications may be used to control hyperuricemia and its complications.
Prognosis[edit | edit source]
The prognosis for individuals with LNS is generally poor, with most individuals not surviving past their twenties due to complications from the disorder.
Epidemiology[edit | edit source]
LNS is a very rare disorder, affecting approximately 1 in 380,000 individuals worldwide. It is more common in males, as it is an X-linked recessive disorder.
See also[edit | edit source]
- Genetic disorder
- X-linked recessive inheritance
- HPRT1
- Hypoxanthine-guanine phosphoribosyltransferase
NIH genetic and rare disease info[edit source]
Lesch-Nyhan syndrome is a rare disease.
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