Genotypic and clinical analysis of 49 Chinese children with hepatic glycogen storage diseases.

ABSTRACT:

Background

Glycogen storage disease (GSD) is a relatively rare inborn metabolic disorder, our study aims to investigate the genotypic and clinical feature of hepatic GSDs in China.

Methods

The clinical and genotypic data of 49 patients with hepatic GSDs were collected retrospectively and analyzed.

Results

After gene sequencing, 49 patients were diagnosed as GSDs, including GSD Ia (24 cases), GSD IIIa (11 cases), GSD IXa (8 cases), GSD VI (3 cases) and GSD Ib (3 cases). About 45 gene variants of G6PC, AGL, PHKA2, PYGL, and SLC37A4 were detected; among which, 22 variants were unreported previously. c.648G>T (p. Leu216Leu) of G6PC exon 5 is the most common variant for GSD Ia patients (20/24,83.33%）, splice variant c.1735+1G>T of AGL exon 13 is relatively common among GSD

SUBMITTER: Liang Y 

PROVIDER: S-EPMC7549605 | biostudies-literature | 2020 Oct

REPOSITORIES: biostudies-literature