Ⅰ-细胞病或粘脂贮积病Ⅱ型(MLⅡ)是常染色体隐性遗传贮积病,具有骨骼异常,精神运动性阻滞,面容粗糙,某些溶酶体酶的血清水平升高,而在细胞外活性降低的特征。此病的病因是N-乙酰葡萄糖胺磷酸转移酶缺乏。通常是根据溶酶体水解酶血清水平的显著升高及培养的细胞中多数酶缺乏进行诊断。 Ⅰ-cell disease or viscous storage disease type Ⅱ (ML Ⅱ) is an autosomal recessive disease, with skeletal abnormalities, psychomotor retardation, rough face, elevated serum levels of some lysosomal enzymes, While the extracellular activity is reduced. The etiology of the disease is N-acetylglucosamine phosphotransferase deficiency. Diagnosis is generally based on a significant increase in serum levels of lysosomal hydrolase and in most cells in cultured cells.