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[Gene mutations and clinical manifestations in children with glycogen storage disease type Ib]

Cui-Li Liang1, Li Liu, Hui-Ying Sheng

  • 1Department of Endocrinology and Metabolism, Guangzhou Women and Children's Medical Center, Guangzhou Medical College, Guangzhou 510623, China. liliuxia@hotmail.com.

Zhongguo Dang Dai Er Ke Za Zhi = Chinese Journal of Contemporary Pediatrics
|August 23, 2013
PubMed

Insights

Glycogen storage disease type Ib (GSDIb) is linked to SLC37A4 gene mutations. The common p.Gly149Glu mutation may correlate with severe infections in Chinese pediatric GSDIb patients.

Area of Science:

  • Genetics
  • Biochemistry
  • Pediatrics

Context:

  • Glycogen storage disease type Ib (GSDIb) results from glucose-6-phosphate translocase (G6PT) deficiency due to SLC37A4 gene mutations.
  • GSDIb patients often experience recurrent infections and inflammatory bowel disease, leading to a poor prognosis.
  • Accurate diagnosis and subtyping of GSDIb are crucial for predicting patient outcomes.

Purpose:

  • To identify and analyze SLC37A4 gene mutations in Chinese GSDIb patients.
  • To investigate the correlation between specific genotypes and clinical manifestations in GSDIb.

Summary:

  • A screening of the SLC37A4 gene in 28 Chinese children diagnosed with GSDIb identified five mutations in 7 patients (25%).
  • The p.Gly149Glu mutation was the most prevalent (69%), and c.959-960 insT was identified as a novel mutation.
  • The p.Gly149Glu mutation showed a potential association with severe infections in pediatric GSDIb cases.

Impact:

  • This study enhances the understanding of SLC37A4 mutations in Chinese GSDIb patients.
  • Findings contribute to improved diagnosis, subtyping, and prognosis prediction for GSDIb.
  • Identifies a potential genotype-phenotype correlation, aiding in clinical management and genetic counseling.
Abstract

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