LSDDB

Mucopolysaccharidoses Ⅰ

MPS Ⅰ (Mucopolysacharidoses Ⅰ) is caused due to the deficiency of Alpha-L-iduronidase. This enzyme catalyzes the hydrolysis of terminal alpha-L-iduronic acid residues of the glycosaminoglycan dermatan sulfate and heparan sulphate. The disease follows an autosomal recessive pattern of inheritance. It is characterized by the accumulation of glycosaminoglycans in the lysosomes and cause cell and tissue damage and finally result in organ dysfunction. This causes elevated levels of GAG in urine, blood and CSF. The gene for IDUA is located at 4p16.3 (Muenzer, 2011).

Reference :
Muenzer, J. (2011) ‘Overview of the mucopolysaccharidoses’, Rheumatology, 50(suppl 5), pp. v4–v12. doi: 10.1093/rheumatology/ker394.