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. Then, as nerve cells become distended with fatty material, a relentless deterioration of mental and physical abilities occurs.
The child becomes blind, deaf, and unable to swallow. Is there any treatment? Presently there is no treatment for Tay-Sachs disease. What is the prognosis? Even with the best of care, children with Tay-Sachs disease usually die by age 4, from recurring infection. What research is being done? Master Muscle List Home Page.
MetaGlossary.com. Erowid. Scirus - for scientific information. Google. NeLM - National electronic Library for Medicines. Interactive Clinical Pharmacology.