Impact of ERT and follow-up of 17 patients from the same family with a mild form of MPS II.

ABSTRACT:

Background

Mucopolysaccharidosis type II, also known as Hunter syndrome, is a rare X-linked recessive disorder caused by deficiency of the lysosomal enzyme Iduronate-2- Sulfatase (IDS), leading to progressive accumulation of Glycosaminoglycans (GAGs) in several organs. Over the years, Enzyme Replacement Therapy (ERT) has provided significant benefits for patients, retarding the natural progression of the disease.

Results

The authors evaluated 17 patients from the same family with a mild form of MPS type II; the proband had developed acute decompensated heart failure refractory to clinical measurements at 23 years and needed a rather urgent heart transplant; however, he died from surgical complications shortly after the procedure. Nevertheless, subsequent to his tragic death,

SUBMITTER: Stephan BO 

PROVIDER: S-EPMC9326110 | biostudies-literature | 2022

REPOSITORIES: biostudies-literature