A Oldham, N J Oxborrow, P Woolfson, P Jenkins, C Gadepalli, J Ashworth, A Saxena, M Rothera, C J Hendriksz, G Tol, A Jovanovic
Mucopolysaccharidosis VII (or Sly syndrome) is an autosomal recessive disorder characterised by a deficiency in the enzyme Beta-glucuronidase ( GUSB ). Partial degradation of glycosaminoglycans (GAGs); chondroitin sulfate (CS), dermatan sulfate (DS) and heparan sulfate (HS) results in the accumulation of these fragments in the lysosomes of many tissues, eventually leading to multisystem damage. In some cases, early diagnosis on clinical grounds alone can be difficult due to the extreme variability of the clinical presentation and disease progression...
December 2022: Molecular Genetics and Metabolism Reports