七、代谢性疾患 1.粘多糖病由于粘多糖代谢障碍而使粘多糖大量蓄积在脑、骨骼及结缔组织等器官而导致新生儿期即可发生的体格、智力发育障碍。在进行粘多糖患者纤维母细胞培养的研究中,发现粘多糖的累积并非由产生过多引起,而是因分解减少所致。七十年代Dorfman等按其分解及分子缺陷将其分为八型,并用于临床,并用患者的组织及尿标本测定粘多糖排泄及 Seven, metabolic disorders 1. Mucopolysaccharidosis due to mucopolysaccharide metabolism caused by a large number of sticky polysaccharides accumulate in the brain, bone and connective tissue and other organs that lead to the neonatal period can occur in physical, mental retardation. In the study of mucopolysaccharide fibroblasts in patients, we found that the accumulation of mucopolysaccharides was not caused by excessive production, but due to reduced decomposition. In the seventies, Dorfman et al. Divided them into eight types according to their decomposition and molecular defects, and used them in clinical practice. The mucosal excretion and