Mutation analysis of SLC37A4 in a patient with glycogen storage disease-type Ib

J Int Med Res. 2019 Dec;47(12):5996-6003. doi: 10.1177/0300060519867819. Epub 2019 Oct 16.

Abstract

Objective: The aim of the study was to investigate the relationship between SLC37A4 gene mutation and clinical phenotype in a patient with glycogen storage disease-type I.

Methods: The clinical data of one patient with glycogen storage disease-type I accumulation syndrome and the results of SLC37A4 gene testing were analyzed. DNA from peripheral blood was used to analyze the SLC37A4 mutations of the patient and his parents.

Results: The patient carried a compound heterozygous mutation of SLC37A4, his mother was heterozygous for the c.572C > T (p.P191L) mutation, and his father was heterozygous for the c.359C > T (p.P120L) mutation.

Conclusion: The patient had two gene mutations: c.359C > T (p.P120L), which is closely related to glycogen storage disease-type I, and c.572C > T (p.P191L), which is a known mutation in the disease.

Keywords: Glycogen storage disease-type I; SLC37A4 gene; compound heterozygote; gene mutation; glucose 6 phosphate transferase; growth hormone.

Publication types

  • Case Reports

MeSH terms

  • Antiporters / genetics*
  • Asian People
  • Base Sequence
  • Body Weight
  • Child
  • Child, Preschool
  • DNA Mutational Analysis
  • Female
  • Genetic Predisposition to Disease*
  • Glycogen Storage Disease Type I / genetics*
  • Growth Hormone / therapeutic use
  • Heterozygote
  • Humans
  • Infant, Newborn
  • Male
  • Monosaccharide Transport Proteins / genetics*
  • Mutation / genetics

Substances

  • Antiporters
  • Monosaccharide Transport Proteins
  • SLC37A4 protein, human
  • Growth Hormone

Supplementary concepts

  • Glycogen Storage Disease IB