Ontology highlight
ABSTRACT:
SUBMITTER: Tchan MC
PROVIDER: S-EPMC3509811 | biostudies-literature | 2011
REPOSITORIES: biostudies-literature
JIMD reports 20110622
Mucopolysaccharidosis type II (MPS II - Hunter syndrome) is a rare X-linked recessive disease of lysosomal glycosaminoglycan metabolism leading to a systemic storage disorder. We report three adult brothers (aged 46-52 years) with attenuated Hunter syndrome after 12 months of enzyme replacement therapy with idursulfase. Before enzyme replacement therapy, each had serious complications of their disease: in addition to all requiring urgent cervical spinal canal decompressions in middle age, one re ...[more]