Definition:
The Lesch-Nyhan syndrome is a rare hereditary disorder which is transmitted by the mother to her male offspring. Patients with the disease suffer from sever mental and physical disabilities as well as self-mutilating behaviors all throughout life.
Diagnosis:
Patients with the disease are diagnosed with high levels of creatinine concentration in the urine. Hyperuricemia is also present, and enzyme activity is 1.5% less than normal.
Treatment:
Doctors use symptomatic treatment for the Lesch-Nyhan syndrome. Allopurinol is used to control production of uric acid, while kidney stones are prescribed with lithotripsy. Some drugs meanwhile relieve the patient of some other symptoms, like phenobarbital, haloperidol and diazepam. Behavioral management meanwhile is used to treat the patient's self-mutilating behaviors.
Symptoms and Signs:
Persons with the Lesch-Nyhan syndrome suffer from overproduced uric acid, impairment in the nervous system such as mental retardation. They also have self-injuring tendencies like finger and lip biting. In some cases, patients have to be strapped on a chair to prevent them from hurting themselves. Other symptoms include severe arthritis.
Causes:
The disease is causeds by a lack of the enzyme hypoxanthine-guanine phosphoribosyltransferase (HGPRT). The Lesch-Nyhan syndrome generates an overproduction of uric acid, which spreads to different organs causing problems such as gout, and develops sodium urate crystals the hinder the proper functioning of the kidneys, central nervous system and various joints. The disease also leads to megaloblastic anemia, due to the inability of the body to utilize vitamin B12.
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