Pulmonary and Critical Care - Department of Medicine - School of Medicine - Stanford Medicine. Tay-Sachs Disease Information Page: National Institute of Neurological Disorders and Stroke (NINDS) What is Tay-Sachs Disease?
Tay-Sachs disease is a fatal genetic lipid storage disorder in which harmful quantities of a fatty substance called ganglioside GM2 build up in tissues and nerve cells in the brain. The condition is caused by insufficient activity of an enzyme called beta-hexosaminidase A that catalyzes the biodegradation of acidic fatty materials known as gangliosides. Gangliosides are made and biodegraded rapidly in early life as the brain develops. Infants with Tay-Sachs disease appear to develop normally for the first few months of life. Master Muscle List Home Page.
MetaGlossary.com. Erowid. Scirus - for scientific information. Google. NeLM - National electronic Library for Medicines. Interactive Clinical Pharmacology.