Natural History and Molecular Characteristics of Korean Patients with Mucopolysaccharidosis Type III.

ABSTRACT:

Background

Mucopolysaccharidosis type III (MPS III) is an autosomal recessive lysosomal storage disorder characterised by progressive neurocognitive deterioration. MPS III subtypes are clinically indistinguishable, with a wide range of symptoms and variable severity. The natural history of this disorder within an Asian population has not yet been extensively studied. This study investigated the natural history of Korean patients with MPS III.

Methods

Thirty-four patients from 31 families diagnosed with MPS III from January 1997 to May 2020 in Samsung Medical Centre were enrolled. Clinical, molecular, and biochemical characteristics were retrospectively collected from the patients' medical records and via interviews.

Results

18 patients had MPS IIIA, 14 had IIIB, and t

SUBMITTER: Kim MS 

PROVIDER: S-EPMC9145712 | biostudies-literature | 2022 Apr

REPOSITORIES: biostudies-literature