| 单词 | Sandhoff Disease,Adult |
| 释义 | Sandhoff Disease,Adult《英文msh词典》Sandhoff Disease,Adult [入口词] Sandhoff Disease,Adult [主题词] Sandhoff Disease [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) |
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