Thekey differencebetween Tay-Sachs and Sandhoff disease是Tay-Sachs疾病是一种溶酶体储存障碍，这是由于β-己糖胺酶A酶缺乏，而Sandhoff病是由于β-己糖胺酶A和β-己糖胺酶B酶的缺乏而导致的Sandhoff病是一种溶酶体储存障碍。
神经节很复杂sphingolipids出现在大脑中。有两种主要形式：GM1和GM2。这两种类型都可能参与溶酶体储存障碍。GM2神经节蛋白是一组由三种相关遗传遗传疾病组成的，其中β己糖胺酶的缺乏导致GM2神经节在大脑中的积累。这三种疾病以其个体名称而闻名：Tay-Sachs疾病，AB变体和Sandhoff病。
内容
1.Overview and Key Difference
2.What is Tay-Sachs Disease
3.What is Sandhoff Disease
4.相似之处 - Tay-Sachs和Sandhoff病
5.Tay-Sachs vs Sandhoff疾病以表格形式
6.Summary – Tay-Sachs vs Sandhoff Disease
What is Tay-Sachs Disease?
Tay-Sachs disease is a lysosomal storage disorder that occurs due to the deficiency of the β-hexosaminidase A enzyme. It is an autosomal recessively inherited genetic disorder that results in the destruction of nerve cells in the brain and spinal cord. The most common form is infantile Tay-Sachs disease. This becomes apparent around three to six months when babies lose the ability to turn over, sit, or crawl. Later, this is followed byseizures, hearing loss, and inability to move, with death occurring by the age of three to five. The less common forms are the Tay-Sachs disease in later childhood or adulthood (juvenile or late-onset). These forms tend to be less severe. However, the juvenile form normally results in death by age 15. This disease has an ethnic association. It is rare in the general population. But in Ashkenazi Jews, French Canadians of southeastern Quebec, Old Order Amish of Pennsylvania, and Cajuns of southern Louisiana, this condition is more common.
Tay-Sachs disease is caused due to genetic mutation of theHEXA染色体15上的基因。该基因编码为β-己糖胺酶A酶的亚基。该突变破坏了酶活性，从而导致大脑和脊髓中GM2神经节苷脂的构建。这导致毒性。可以通过测量血液β-己糖胺酶A水平，视网膜神经元的微观分析和基因检测来诊断这种情况。此外，TAY-SACHS疾病的可能治疗方法包括酶替代疗法，底物还原疗法，通过药物嘧啶，脐带血移植和基因疗法增加β-己糖胺酶A活性。
What is Sandhoff Disease?
Sandhoff病是一种溶酶体储存障碍，由于β-己糖胺酶A和β-己糖胺酶B酶的缺乏而发生。该疾病中有一个β-.-己糖胺酶A和B缺乏症。该疾病的临床表现包括从6个月开始进行的进行性脑变性，伴随着失明，樱桃红色黄斑斑点和超丘脑。有三种类型：经典的婴儿形式发生在2至9个月大时，是3至10岁儿童发生的少年形式，而老年人则发生的成年形式。经典婴儿形式导致3岁时死亡，而少年形式导致死亡到15岁。此外，尚不清楚这种疾病是否会导致老年人的寿命降低。这种疾病存在内脏的参与（肝肿大和骨变化）。但是，没有种族有关Sandhoff病的族裔
的diagnosis of this disease can be made through testing the activity of β-hexosaminidase A and B (enzyme assays) and their levels in the blood. Genetic testing of theHEXBgene can also be used to confirm the diagnosis. The other diagnosis methods include liver biopsy, molecular analysis of cells and tissues to determine the presence of a genetic metabolic disorder, and urine analysis. Furthermore, the treatment options for Sandhoff disease may include using anticonvulsants to reduce seizures, consuming a precise diet, respiratory support for children, medications such as N-butyl deoxynojirimycin, and gene therapy.
What are the Similarities Between Tay-Sachs and Sandhoff Disease?
- Tay-Sachs和Sandhoff疾病是两种类型的GM2神经节蛋白。
- 在两种疾病中，GM2神经节苷脂均积累在神经元细胞中。
- 两种疾病都是由于两种类型的β-己糖胺酶的缺乏造成的
- They are genetic disorders inherited in an autosomal recessive pattern.
- Both diseases have three forms: infantile, juvenile, and adult-onset.
- They show similar common symptoms.
- Moreover, they can be treated through gene therapy.
Tay-Sachs和Sandhoff病有什么区别？
Tay-Sachs disease is a lysosomal storage disorder that occurs due to the deficiency of β-hexosaminidase A enzyme while Sandhoff disease is a lysosomal storage disorder that occurs due to the deficiency of both β-hexosaminidase A and β-hexosaminidase B enzymes. Thus, this is the key difference between Tay-Sachs and Sandhoff disease. Furthermore, Tay-Sachs disease is due to the genetic mutation of theHEXAgene, while Sandhoff disease is due to the genetic mutation of theHEXBgene.
The below infographic presents the differences between Tay-Sachs and Sandhoff disease in tabular form for side by side comparison.
Summary – Tay-Sachs vs Sandhoff Disease
Tay-Sachs and Sandhoff disease are two types of lysosomal storage disorders that occur due to the accumulation of GM2 ganglioside. Tay-Sachs disease is due to the deficiency of β-hexosaminidase A enzyme, while Sandhoff disease is due to the deficiency of both β-hexosaminidase A and β-hexosaminidase B enzymes. So, this is the key difference between Tay-Sachs and Sandhoff disease.
Reference:
1.“”Tay-Sachs病.” Healthline, Healthline Media, 3 Mar. 2022.
2. “Sandhoff Disease: What Is It, Causes, Diagnosis & Treatment.” Cleveland Clinic.
Image Courtesy:
1.“”Sphingolipidoses” by abuxbaum，sav_vas - 自己的工作(CC BY-SA 3.0)via Commons Wikimedia
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