Etiket - Tay-Sachs disease

Tay-Sachs disease

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 presents with a relentless deterioration of mental and physical abilities which commences at 6 months of age and result ultimately in death usually by the age of four. It is caused by a genetic defect in a single gene with one defective copy of that gene inherited from each parent. [...]

Daha fazla oku...