LSDDB

Mucopolysaccharidoses ⅠⅠ

MPS Ⅱ (Mucopolysacharidoses Ⅱ) is caused due to the deficiency of Iduronate 2 sulfatase. This enzyme catalyzes the hydrolysis of dermatan sulfate and heparan sulfate. Therefore the disease is charachterised by accumulation of the aforementioned substrates within the lysosomes. The disease follows sex linked pattern of inheritance. The gene for IDS is located at Xq28 (Clarke et al., 1992). Due to X chromosome inactivation which is a skewed process, males tend to be affected more when compared to females (Stapleton et al., 2017).

Reference :
Clarke, J. T. et al. (1992) ‘Characterization of a deletion at Xq27-q28 associated with unbalanced inactivation of the nonmutant X chromosome’, American Journal of Human Genetics, 51(2), pp. 316–322.
Stapleton, M. et al. (2017) ‘Presentation and treatments for Mucopolysaccharidosis Type II (MPS II; Hunter Syndrome)’, Expert Opinion on Orphan Drugs, 5(4), pp. 295–307. doi: 10.1080/21678707.2017.1296761.