[國考申覆] 醫學(二) 44
(B) 44.一位小孩罹患罕見基因缺陷之遺傳疾病「尼曼匹克症（Niemann-Pick disease）」
此孩子剛出生時活潑正常，8 個月後出現吞嚥困難、腦部功能退化，最後將成為植物人而
死亡。這類疾病主要是那一類物質代謝失常而堆積在組織中所造成？
A. triacylglycerol
B. gangliosides
C. vitamin D
D. cholesterol
寫的時候想找sphingomyelin結果沒這選項@@
Lehninger 6e p.356
Niemann-Pick disease is caused by a rare genetic defect in the enzyme
sphingomyelinase, which cleaves phosphocholine from sphingomyelin.
Sphingomyelin accumulates in the brain, spleen, and liver.
The disease becomes evident in infants and causes mental retardation and early
death.
More common is Tay-Sachs disease, in which ganglioside GM2 accumulates in the
brain and spleen owing to lack of the enzyme hexosaminidase A.
The symptoms of Tay-Sachs disease are progressive developmental retardation,
paralysis, blindness, and death by the age of 3 or 4 years.
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