Therapy-type related long-term outcomes in mucopolysaccaridosis type II (Hunter syndrome) - Case series.

ABSTRACT: Mucopolysaccharidosis type II (MPS II, Hunter syndrome) is a rare, X-linked recessive multisystem lysosomal storage disease due to iduronate-2-sulfatase enzyme deficiency. We presented three unrelated Slovenian patients with the severe form of MPS II that received three different management approaches: natural course of the disease without received specific treatment, enzyme replacement therapy (ERT), and hematopoietic stem cell transplantation (HSCT). The decision on the management depended on disease severity, degree of cognitive impairment, and parent's informed decision. The current benefits of MPS II treatments are limited. The lifelong costly intravenous ERT brings significant benefits but the patients with severe phenotypes and neurological involvement progress to cognitive decline

SUBMITTER: Zerjav Tansek M 

PROVIDER: S-EPMC8251508 | biostudies-literature | 2021 Sep

REPOSITORIES: biostudies-literature