hexosaminidase a and b deficiency造句

• "' Sandhoff disease "', also known as "'Sandhoff-Jatzkewitz disease "', "'variant 0 of GM2-Gangliosidosis "'or "'Hexosaminidase A and B deficiency "', is a lysosomal genetic, lipid storage disorder caused by the inherited deficiency to create functional beta-hexosaminidases A and B . These catabolic enzymes are needed to degrade the neuronal membrane components, ganglioside GM2, its derivative GA2, the glycolipid globoside in visceral tissues, The rare autosomal recessive neurodegenerative disorder is clinically almost indistinguishable from Tay-Sachs disease, another genetic disorder that disrupts beta-hexosaminidases A and S . There are three subsets of Sandhoff disease based on when first symptoms appear : classic infantile, juvenile and adult late onset.