A case of glycogen storage disease type Ia with multiple hepatic adenomas and G727T mutation in the glucose-6-phosphatase gene, and a comparison with other mutations previously reported

Am J Gastroenterol. 1998 Sep;93(9):1550-3. doi: 10.1111/j.1572-0241.1998.00480.x.

Abstract

We report a case of 23-yr-old man with glycogen storage disease (GSD) type Ia complicated by multiple hepatic adenomas. Analysis of the G-6-Pase gene using peripheral blood sample showed this patient to be homozygous for a G-to-T transversion at nucleotide 727 in exon 5. This mutation is prevalent among Japanese patients, suggesting that specific genotypes may correlate with different clinical courses or outcomes.

Publication types

  • Case Reports
  • Review

MeSH terms

  • Adenoma / blood
  • Adenoma / complications*
  • Adult
  • Glucose-6-Phosphatase / genetics*
  • Glycogen Storage Disease Type I / blood
  • Glycogen Storage Disease Type I / complications*
  • Glycogen Storage Disease Type I / genetics
  • Humans
  • Lipids / blood
  • Liver Neoplasms / blood
  • Liver Neoplasms / complications*
  • Male
  • Mutation*
  • Neoplasms, Multiple Primary / blood
  • Neoplasms, Multiple Primary / complications*

Substances

  • Lipids
  • Glucose-6-Phosphatase