複選題
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

Lysosomal storage disease

1.  Gaucher dz: there is a macrophage with a crinkled paper like appearance in the cytoplasm.  There are lysosomes filled with glucocerebroside, therefore pt has Gaucher dz.  It’s an auto recessive dz with a missing glucocerebroside.  

2.  Niemann-Pick dz: bubbly cytoplasm, severe mental retardation, buildup of sphingomyelin in the lysosomes, herefore the pt has Niemann-Pick dz, missing sphingomyelinase.

3.  Pompe’s Dz: only glycogen storage dz that has lysosomal storage = Pompe’s; only glycogen storage dz that is lysosomal b/c they are missing an enzyme to break glycogen down in the lysosomes.  How does pt die? Die from cardiac failure b/c excess deposition of normal glycogen in the heart.