Clinical and genetic spectrum of GSD type 6 in Korea.

ABSTRACT:

Background

Glycogen storage disease type VI (GSD VI) is a rare disease in which liver glycogen metabolism is impaired by mutations in the glycogen phosphorylase L (PYGL). This study aimed to examine the clinical features, genetic analyses, and long-term outcomes of patients with GSD VI in Korea.

Methods

From January 2002 to November 2022, we retrospectively reviewed patients diagnosed with GSD VI using a gene panel at Seoul National University Hospital. We investigated the clinical profile, liver histology, molecular diagnosis, and long-term outcomes of patients with GSD VI.

Results

Five patients were included in the study. The age at onset was 18-30 months (median, 21 months), and current age was 3.7-17 years (median, 11 years). All patients showed hepatomegaly, elev

SUBMITTER: Hahn JW 

PROVIDER: S-EPMC10233917 | biostudies-literature | 2023 Jun

REPOSITORIES: biostudies-literature