Otherwise Called Nyhan s Syndrome - 1273 Words

Lesch-Nyhan Syndrome, otherwise called Nyhan’s syndrome, hypoxanthine-guanine phosphoribosyltransferase (HPRT) deficiency or juvenile gout, is a rare hereditary disorder that affects almost exclusively males at a very young age. Thereby, they develop neurological and behavioral abnormalities-physical handicaps, mental retardation and abnormal involuntary muscle movements- and the overproduction of uric acid. This paper will outline the Lesch-Nyhan syndromes genetic and metabolic components, symptoms and signs, how and when a patient should present to a physician, what makes the physician think that a patient has the disease, how it is diagnosed, the treatment and/or cure, and its longevity. The history of Lesch-Nyhan syndrome began first when it was discovered or recognized by Michael Lesch and William Nyhan. Michael Lesch and William Nyhan supplied the first detailed clinical characterization of Lesch-Nyhan disease in the year 1964 (H A Jinnah, 2015). Additionally, the defici ency of the enzyme hypoxanthine-guanine phosphoribosyl transferase was observed by Seegmiller and associates in 1967 (H A Jinnah, 2015). Lesch-Nyhan Syndrome is genetically caused due to the deficiency of hypoxanthine-guanine phosphoribosyl transferase or the HPRT1 gene mutation. The complete or acute deficiency of HRPT leads to this Lesch-Nyhan syndrome. The gene mutation is located in the X chromosome. The HPRT gene is found on the long arm of the X chromosome and the amino acid coding for HPRT isShow MoreRelatedThe Role Of Haematopoietic Stem Cell Transplantation And Curing Disease2357 Words   |  10 Pagesamounts of circulating progenitor and HSC’s. It is possible to coax more stem and progenitor cells into peripheral blood by giving the donor or auto patient cytokines such as granulocyte colony stimulating factor afew days before collection. This is called mobilized peripheral blood and is now the preferred method of stem cell collection with around 5-20% of cells col lected being fully blood progenitor cells. For this method white blood cells and CD34 count are taken daily with harvest beginning once