Lesch Nyhan Syndrome Research Paper
Lesch-Nyhan Syndrome
A report by
Okafor Gift Onyinye
A student from the department of Molecular Biology and Genetics.
Introduction
The Lesch-Nyhan syndrome (LNS), was found by Michael Lesch and William Nyhan and has provided the first detailed clinical description of Lesch-Nyhan disease in 1964, is a rare inherited disorder transmitted as a sex-linked trait and caused by a deficiency of an enzyme of purine metabolism: hypoxanthine-guanine phosphoribosyltransferase (HGPRT). (1)
Epidemiology
The lesch-Nyhan disease, it is a rare genetic disorder that can be transmitted at birth. Estimate show that at birth it affect 1/380000 and 1/235000 live births. The lesch Nyhan syndrome is an x-linked recessive disease. The gene mutation or a mutant
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The term Lesch-Nyhan variants has been introduced to include patients with HPRT-related gout and some degree of neurological involvement, but without the complete Lesch-Nyhan syndrome. (7)
Overproduction of uric acid: one of the first and most common symptoms of this disease is the presence of sand- like crystals or orange crystals of uric acid in the diapers of an affected infant. This development of uric acid crystals or stone is as a result of the overproduction of uric acid in the body. These orange grainy material crystals may coalesce to form either multiple tinny stones like in gravel forms, or may appear in distinct large stones that might be much difficult to pass. These large stones gravel and crystals, like to form in three main areas of the body.
1. It affects the area of the bone joint, especially those of the fingers and toes. When these occur, the crystals cause irritation of the joints between the bones. This problem is usually called Gout. This gout is actually seen in the human’s body as one of the signs of the Lesch-Nyhan syndrome, which is the toes and finger becoming swollen, red, and very
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