IDS substrates Defective IDS does not hydrolyse sulfates from Lido Authored: Jassal, B, 2012-05-20 Defective IDS does not hydrolyse sulfates from L-iduronate units of DS or HS Edited: Jassal, B, 2012-05-20 Mucopolysaccharidosis II (MPS II, Hunter syndrome, MIM:309900) is an X-linked genetic disorder caused by defects in the gene encoding the enzyme iduronate 2-sulfatase (IDS, MIM:300823). This causes an accumulation of the GAGs dermatan sulfate and heparan sulfate and their excessive excretion in urine. MPS II has a broad range of severity with variable mental retardation and life expectancy. This disease has a prevelence of approximately 1 in 170,000 male births (Muenzer et al. 2009). The R468 codon may be a mutational hot-spot, as it has been noted in patients with diverse ethnic origins: R468W (Crotty et al. 1992), R468L and R468Q (Isogai et al. 1998). R443X is also a frequent mutation (Froissart et al. 1998). Pubmed1284597 Pubmed19901005 Pubmed9501270 Pubmed9660053 Reactome Database ID Release 432262743 Reactome, http://www.reactome.org ReactomeREACT_147818 Reviewed: Alves, Sandra, 2012-08-27 Reviewed: Coutinho, Maria, 2012-08-27 Reviewed: Matos, Liliana, 2012-08-27