78.下列何者是組織結構蛋白（structural proteins）缺損引起的遺傳性疾病？
(A)埃勒斯－當洛症候群（Ehlers-Danlos syndrome）
(B)黏多醣貯積症（mucopolysaccharidoses）
(C)高雪氏症（Gaucher disease）
(D)戴－薩克斯症（Tay-Sachs disease）

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統計： A(287), B(84), C(72), D(79), E(0) #1634584

詳解 (共 3 筆)

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Tay–Sachs disease is a genetic disorder that results in the destruction of nerve cells in the brain and spinal cord.[1] The most common type, known as infantile Tay–Sachs disease, becomes apparent around three to six months of age with the baby losing the ability to turn over, sit, or crawl. (WIKIPedia)

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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.  

Ehlers Danlos – defect in collagen due to syn/breaking down; have poor wound healing. 

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