The Tay-Sachs disease and Sandhoff disease are Sphingolipidoses, an inherited metabolic disorder caused by a Hexosaminidasemangel leading to severe neurological symptoms and early death.
Gangliosides are complex sphingolipids in the brain. The two forms, GM1 and GM2, both go with a lysosomal storage disease associated. One distinguishes two main types of GM2 Gangliosidosis, both of which can be caused by many different mutations.
The Tay-Sachs disease and Sandhoff disease are Sphingolipidoses, an inherited metabolic disorder caused by a Hexosaminidasemangel leading to severe neurological symptoms and early death. Gangliosides are complex sphingolipids in the brain. The two forms, GM1 and GM2, both go with a lysosomal storage disease associated. One distinguishes two main types of GM2 Gangliosidosis, both of which can be caused by many different mutations. For more information, see Table sphingolipidosis. See also approach in a patient with suspected congenital metabolic disorder Tay-Sachs disease Deficiency of hexosaminidase A leads to an accumulation of GM2 in the brain. Inheritance occurs as an autosomal recessive. The most common mutation is detected in 1/27 normal adults with Eastern European, Ashkenazi- or Jewish background, although there are other mutation accumulations in some French, Canadian and Cajun populations. Children with Tay-Sachs disease do not achieve the developmental milestones from the age of 6 months. They develop an increasing cognitive and motor deterioration that leads to seizures, mental retardation, paralysis and death with 5 years. A cherry-red macular spot is often seen. Tay-Sachs disease (cherry-red spot) RALPH C. agle JR./SCIENCE PHOTO LIBRARY var model = {thumbnailUrl ‘/-/media/manual/professional/images/c0034401_cherry_red_spot_tay-sachs_disease_science_photo_library_high_de.jpg?la=de&thn=0&mw= 350 ‘, imageUrl:’ /-/media/manual/professional/images/c0034401_cherry_red_spot_tay-sachs_disease_science_photo_library_high_de.jpg?la=de&thn=0 ‘, title:’ Tay-Sachs disease (cherry-red spot) ‘description:’ u003Ca id = “v38397347 ” class = “”anchor “” u003e u003c / a u003e u003cdiv class = “”para “” u003e u003cp u003eAlle patients with Tay-Sachs disease have a “”cherry-red “” point