Lesch-Nyhan Disease

Lesch-Nyhan disease

Lesch-Nyhan disease is a gender-linked hereditary disease that occurs due to a deficiency of a certain enzyme in the body, as a result of which a person produces an excess amount of uric acid.

The disease occurs only in males. Patients suffer from mental retardation and experience spasticity and gouty arthritis.

In addition, they often have a compulsive urge to inflict various injuries on themselves.

Lesch-Nyhan disease is a gender-linked hereditary disease that occurs due to a deficiency of a certain enzyme in the body, as a result of which a person produces an excess amount of uric acid. The disease occurs only in males; patients suffer from mental retardation, they experience symptoms of spasticity and gouty arthritis. In addition, they often have a compulsive urge to inflict various injuries on themselves. Thus, Lesch-Nyhan disease is a severe genetic disease that exclusively affects men and manifests itself with both physical and mental symptoms. Timely diagnosis and treatment can alleviate the course of the disease.

Lisch-Nyanzannik Disease (also known as Lesch-Nyanzannik syndrome and phenylpyruvic oligonuria) is a genetic disorder with X-linked inheritance that usually occurs in males. Symptoms of this disease include mental retardation, developmental delays, and movement problems. Because it occurs due to a deficiency of an enzyme called hypoxanthine phosphoribosyltransferase (HPRT), people with Lesch disease have uric acid levels that are significantly higher than those of healthy people.

The occurrence of this disease is gender-linked, meaning that women have no symptoms or may only occasionally notice them. The disease can occur in different forms, including sialic, molecular, nutritional or even cosmetic. People with this disease may exhibit a variety of symptoms, ranging from intellectual problems to a tendency to self-harm or commit suicide. They may also suffer from seizures, paralysis and joint problems, and may sometimes be diagnosed with blood clots.

In most cases, Lessch disease is diagnosed in men at an early age due to symptoms of developmental delay. Sometimes it can be diagnosed in older children