g(m2) gangliosidosis,type ii meaning in Chinese

《英文msh词典》G(M2) Gangliosidosis,Type II
[同义词] G(M2) Gangliosidosis,Type II
[主题词] Sandhoff Disease
[中文释义] G(M2)神经节苷脂累积病,Ⅱ型
[英文释义] An autosomal inherited disease caused by deficiency of the enzymes hexosaminidase A & B (see BETA-N-ACETYLHEXOSAMINIDASE) which leads to an accumulation of GM2 ganglioside and the sphingolipid globoside in neurons and other organs. Clinical manifestations resemble TAY-SACHS DISEASE,but the disease is not limited to Askenazi Jews and may feature hepatosplenomegaly. The infantile form presents in the first 4 months of life with psychomotor delay,hypotonia followed by spasticity,and cherry red spots in the macula. Rare juvenile and adult forms have been reported. (From Menkes,Textbook of Child Neurology,5th ed,p92)