MUCOPOLYSACCHARIDOSIS - CASE REPORT

Abstract

Mucopolysaccharidoses are hereditary,progrsesive diseases caused by  mutations of genes coding for lysosomal enzymes needed to  degrade glycosaminoglycans (acid mucopolysaccharides),the major GAGs are  chondroitin -4 sulphate,heparansulphate,chondroitin-6-sulphate,dermatansulphate,keratin sulphate,hyaluronan

The prevalence of MPS-I in¹/1000000 is caused by mutations of the IDUA gene on chromosome 4P16.3 encoding α-L-iduronidase, mutation analysis was revealed 2 major allele, W4O2X, Q70k account for more than half the MPS-I allel’s in the white population.