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Who discovered Lesch-Nyhan syndrome?
Lesch-Nyhan syndrome was first described in 1964 by Drs. Michael Lesch and William Nyhan. The enzyme deficiency that causes the disorder was discovered in 1967 by a researcher named Seegmiller.
What is Lesch-Nyhan syndrome?
Lesch-Nyhan syndrome is a rare genetic disorder that affects males. Males with this syndrome develop physical handicaps, mental retardation , and kidney problems.
Who is Rudolf Lesch?
He was one of the men who discovered and researched the Lesch-Nyhan Syndrome. The Lesch-Nyhan syndrome is a syndrome inherited as a sex-linked recessive disorder. This syndrome causes you to bite your lips and fingers. So basically it causes you to start biting yourself.
What disease makes you eat yourself?
Lesch-Nyhan syndrome
Can Lesch-Nyhan syndrome be prevented?
At present, there are no preventive measures for Lesch-Nyhan syndrome. However, recent studies have indicated that this genetic disorder may be a good candidate for treatment with gene replacement therapy.
When do problems start with Lesch-Nyhan syndrome?
Symptoms of Lesch-Nyhan syndrome typically appear in infancy, when affected individuals may exhibit delays in motor skills development. By ages 3-4, self-injurious behaviors, such as biting fingers or lips, typically begin. These symptoms persist throughout life and can be managed but not cured.
When does Lesch-Nyhan syndrome begin?
At birth, males with Lesch-Nyhan syndrome appear completely normal. Development is usually normal for the first few months. Symptoms develop between three to six months of age.
What causes Lesch-Nyhan syndrome?
The syndrome is caused by a severe change (mutation) in the HPRT gene . Since the HPRT gene is located on the X chromosome, Lesch-Nyhan syndrome is considered an X-linked disorder and therefore only affects males.
How is Lesch-Nyhan syndrome treated?
There are no known treatments for the neurological defects of Lesch-Nyhan. The medication Allopurinol can lower blood uric acid levels. This medication does not correct many of the symptoms.
Who gets Lesch-Nyhan syndrome?
Lesch-Nyhan syndrome is a rare genetic disorder that primarily affects males. It is caused by a mutation in the HPRT1 gene and is inherited in an X-linked recessive pattern. Symptoms include neurological and behavioral abnormalities, self-injurious behaviors, and overproduction of uric acid.
What tests for Lesch-Nyhan syndrome?
It is diagnosed by measuring the activity of the HPRT enzyme through a blood test. When the activity of the enzyme is very low it is diagnostic of Lesch-Nyhan syndrome. It can also be diagnosed by DNA testing. This is also a blood test.
What does Lesch-Nyhan syndrome do to kidneys?
Males with Lesch-Nyhan disease may also develop kidney damage due to kidney stones. Swollen and tender joints (gout) is another common problem.
