Fukuda S, Sukegawa K, Tomatsu S, Orii T
Department of Pediatrics, School of Medicine, Gifu University.
Nihon Rinsho. 1995 Dec;53(12):3019-24.
Mucopolysaccharidoses (MPS) are a lysosomal storage disorders caused by deficiency of several enzymes needed for degradation of mucopolysaccharides (glycosaminoglycans). Undegraded glycosaminoglycans accumulate in the cell, part of which are excreted into the urine. There are 10 known enzyme deficiencies that give rise to six distinct MPS. Despite the different enzyme defect, there is clinical similarity between different deficiencies and conversely, wide phenotypic variety among even one enzyme deficiency. Most of the cDNAs corresponding the defect enzyme as well as genomic DNA have been cloned. Mutational analyses of the patient gene have revealed the molecular basis of the disease, correlation of the genotype and phenotype and made the accurate heterozygote diagnosis feasible. Supportive management can greatly improve the quality of life and moreover, development of therapies, such as BMT, administration of recombinant enzyme and gene transfer are in progress for the patients suffering from MPS.
黏多糖贮积症（MPS）是一类溶酶体贮积病，由降解黏多糖（糖胺聚糖）所需的几种酶缺乏所致。未降解的糖胺聚糖在细胞内蓄积，部分会排泄到尿液中。已知有10种酶缺乏可导致6种不同的MPS。尽管酶缺陷不同，但不同缺乏症之间存在临床相似性，反之，即使是一种酶缺乏也存在广泛的表型差异。大多数与缺陷酶对应的cDNA以及基因组DNA已被克隆。对患者基因的突变分析揭示了疾病的分子基础、基因型与表型的相关性，并使准确的杂合子诊断成为可能。支持性治疗可极大地改善生活质量，此外，针对MPS患者的治疗方法，如骨髓移植、重组酶给药和基因转移等正在研发中。
