NAGLU substrates Defective NAGLU does not hydrolyse GlcNAc Authored: Jassal, B, 2012-05-21 Defective NAGLU does not hydrolyse N-acetylglucosamine from HS or heparan Edited: Jassal, B, 2012-05-21 MPS IIIB (Sanfilippo syndrome B, Mucopolysaccharidosis IIIB, MIM:252920) is an autosomal recessive genetic disorder due to loss of function of alpha-N-acetylglucosaminidase (NAGLU; MIM:609701), normally involved in the hydrolysis of terminal non-reducing N-acetyl-D-glucosamine residues in heparan sulfate (HS). Mutations that cause severe forms of MPSIIIB are R674C or H (Zhao et al. 1998), R297X (Yogalingam & Hopwood 2001, Zhao et al. 1998) and R626X (Beesley et al 2004). Pubmed11668611 Pubmed14984474 Pubmed9443875 Reactome Database ID Release 432263496 Reactome, http://www.reactome.org ReactomeREACT_147874 Reviewed: Alves, Sandra, 2012-08-27 Reviewed: Coutinho, Maria, 2012-08-27 Reviewed: Matos, Liliana, 2012-08-27