Clinical and Genetic Characteristics of Romanian Patients with Mucopolysaccharidosis Type II.

ABSTRACT:

Background

Mucopolysaccharidosis type II (MPS II, Hunter syndrome) is a rare X-linked disorder caused by deficiency of iduronate-2-sulfatase (I2S) enzyme, which leads to the accumulation of partially digested glycosaminoglycans (GAGs) in the lysosomes and induces multisystemic alteration (coarse facial features; skeletal dysplasia; hepatosplenomegaly; joint stiffness and contractures; heart, lung, vision, and hearing disability; profound neurological decline).The purpose of this study is to present the clinical and genetic characteristics of Romanian patients with Hunter syndrome and the genotype-phenotype correlation.

Material and methods

15 unrelated patients, with MPS II ranging from mild (4 subjects) to severe phenotype (11 subjects) aged 2 to 20 years, were evaluated cl

SUBMITTER: Alkhzouz C 

PROVIDER: S-EPMC5413445 | biostudies-literature | 2017

REPOSITORIES: biostudies-literature