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Sandhoff 病或 Gm2神经节苷脂沉积症变异型O 是一种常染色体隐性遗传蓄积病,此病是由于溶酶体β-氨基已糖苷酶 A 和 B(Hex A 和 Hex B)缺陷所致。该酶缺陷造成多种糖结合物和神经节苷脂在内脏组织和中枢神经系统蓄积。这种疾病分为婴儿期和青少年期发病二种类型,婴儿期发病较多,且病情严重。Desnick(1973)曾检测羊水细胞对本病进行产前诊断。本文首次报道检测绒毛(CV)Hex A和 Hex B 活性而进行产前诊断。作者检测35例 CV对照样品的 Hex 总活性,正常范围为3,227～24,495
Sandhoff’s disease or Gm2 gangliosidosis Variant O is an autosomal recessive disease that is caused by defects in the lysosomal β-hexosaminidases A and B (Hex A and Hex B) . This enzyme defect causes accumulation of many carbohydrate conjugates and gangliosides in the visceral tissues and the central nervous system. The disease is divided into two types of infancy and adolescent onset, infantile onset more, and the condition is serious. Desnick (1973) examined amniotic fluid cells for prenatal diagnosis of the disease. This article first reported the detection of villi (CV) Hex A and Hex B activity for prenatal diagnosis. The authors tested Hex total activity of 35 CV controls with a normal range of 3,227 to 24,495