Rare Disorders: Causes of The Lesh-Nyhan Disease

I think that Lesch-Nyhan syndrome (or disease) is used as a synonym, but because it does not have what is called hypoxanthine-guanine phosphoribosyltransferase (HPRT), it is carried by mother and passed to son rarely It is a disease that causes enzymes [3]. It usually occurs in men and is a high risk factor due to metabolic abnormalities associated with excessive uric acid production [1, 2]. Uric acid is a waste contained in blood and urine. Excessive uric acid may be released into the blood or under the skin, which can cause gouty arthritis, kidney or bladder stone [2].

Lesch-Nyhan syndrome, also known as Nyhan syndrome, is a rare genetic disorder caused by the deficiency of hypoxanthine-guanine phosphoribosyltransferase (HGPRT). LNS is an X-linked recessive disorder. This gene is carried by the mother and handed over to the son. LNS was born as a boy. Patients have serious mental and physical problems throughout their lifetime. White matter dystrophy - refers to progressive degradation of white matter due to incomplete growth or development of myelin sheath acting as an insulator around the nerve fiber. Myelin gives its color to the white matter of the brain and is a complex substance consisting of at least 10 different chemicals. Malar dystrophy is a group of diseases caused by the genetic defects of myelin producing or metabolizing these chemicals.

Lesch Nyhan syndrome (LNS) is a rare inherited disorder caused by hypoxanthine-guanine phosphoribosyltransferase or HRPT deficiency. LNS is characterized by self-injurious behavior such as bites and finger bites and / or head hits. Symptoms of LNS usually occur between 3 and 6 months of age. Usually, the first symptom is that there are orange crystalline deposits in the diaper of the child, such as orange sand. Deposits known as uric acid crystal formation are caused by increased uric acid levels in the urine. Patients with LNS have abnormally high levels of uric acid, but this may also cause the formation of sodium urate crystals in joints, kidneys, central nervous system, and other body tissues.