英和和英

出典:『Wikipedia』 (2011/05/30 13:13 UTC 版)

英語による解説

引用

Sandhoff disease, also known as Jatzkewitz-Pilz syndrome and Hexosaminidase A and B deficiency, is a rare autosomal recessive, genetic, lipid storage disorder. An autosomal recessive disease is one passed down from two carrier parents to their offspring. The disease causes a lysosomal storage disorder where the patient has the inability to create the beta-hexosaminidase A and beta-hexosaminidase B, which is an enzyme that leads to a build-up of GM2 gangliosides in tissues of the body. This build-up is toxic at high levels, which leads to a progressive destruction of the central nervous system, damages the tissues and eventually leads to death. There are three subsets of the disease based on when the patient shows symptoms: classic infantile, juvenile and adult late onset. Clinically Sandhoff disease is undeterminable from Tay-Sachs disease, another genetic disorder that disrupts the beta-hexosaminidase A.