Tag: inherited diseases
Sphingolipidosis 1
Sphingolipidosis 1: Definition and Description of Sphingolipidosis 1: Sphingolipidosis 1, often referred to as sphingolipidosis, is a group of inherited metabolic disorders that affect the brain, spinal cord, and other organs. These conditions are characterized by the accumulation of sphingolipids—complex lipids that play vital roles in cell signaling and the protective coatings of nerve cells.…
Gangliosidosis GM2 Type 2
Gangliosidosis GM2 Type 2 Definition and Description of Gangliosidosis GM2 Type 2 Gangliosidosis GM2 Type 2, also known as Tay-Sachs disease, is a genetic disorder that affects the body’s ability to break down certain fats known as gangliosides. This condition is caused by a deficiency in the enzyme Hexosaminidase A (Hex-A), which is essential for…