Ohashi T
Jikei University School of Medicine, Department of Pediatrics
Nihon Rinsho. 1995 Dec;53(12):2943-6.
Gaucher disease is an inherited metabolic disease characterized by deficient activity of lysosomal enzyme, known as a glucocerebrosidase. Three clinical phenotype were documented depends on the onset of disease and neuronal involvement. Deficient activity of glucocerebrosidase results in progressive accumulation of glucocerebroside mainly in bone marrow derived macrophages. Diagnosis was made based on enzymatic activity in various tissue including WBC and fibroblasts. Molecular diagnosis was also possible. However, it is difficult to differentiate the three phenotypes. Although bone marrow transplantation and enzyme infusion therapy are both effective, the inherent problems limits their application. Gene therapy based on transfer of the therapeutic gene to hematopoietic stem cells were started in this year in USA.
戈谢病是一种遗传性代谢疾病，其特征是溶酶体酶（称为葡萄糖脑苷脂酶）活性不足。根据疾病的发作和神经元受累情况记录了三种临床表型。葡萄糖脑苷脂酶活性不足导致葡萄糖脑苷脂主要在骨髓来源的巨噬细胞中进行性积累。诊断基于包括白细胞和成纤维细胞在内的各种组织中的酶活性。分子诊断也是可行的。然而，很难区分这三种表型。尽管骨髓移植和酶输注疗法都有效，但固有的问题限制了它们的应用。基于将治疗性基因转移到造血干细胞的基因疗法今年在美国开始。
