Human genes for Tay-Sachs disease
Tay-Sachs disease [DOID:3320]
Tay–Sachs disease (abbreviated TSD, also known as GM2 gangliosidosis or Hexosaminidase A deficiency) is an autosomal recessive genetic disorder. In its most common variant, known as infantile Tay–Sachs disease, it causes a relentless deterioration of mental and physical abilities that commences around six months of age and usually results in death by the age of four. It is caused by a genetic defect inherited from both parents. The disease occurs when harmful quantities of cell membrane components known as gangliosides accumulate in the nerve cells of the brain, eventually leading to the premature death of those cells. There is no cure or treatment.
Synonyms: Tay-Sachs disease, DOID:3320, TaySachs disease, Tay-Sachs disorder, Tay-Sachs syndrome ...