Fluorodeoxyglucose-positron emission tomography as a potential alternative tool for functional diagnosis of glycogen storage disease type I

Research output: Contribution to journalArticlepeer-review

Abstract

A 43-year-old woman with genetically confirmed glycogen storage disease type Ib was suspected to have left breast cancer. Fluorodeoxyglucose-positron emission tomography showed high fluorodeoxyglucose accumulation in the whole liver as well as left mammary gland. We consider that high fluorodeoxyglucose accumulation in the liver of patients with glycogen storage disease type I is caused by impaired glucose-6-phosphate metabolism due to the congenital deficiency of glucose-6-phosphatase activities in hepatocytes. This study describes fluorodeoxyglucose-positron emission tomography as a potential alternative tool to diagnose glycogen storage disease type I functionally.

Original languageEnglish
Pages (from-to)91-93
Number of pages3
JournalRadiology Case Reports
Volume18
Issue number1
DOIs
Publication statusPublished - 2023 Jan

Keywords

  • Fluorodeoxyglucose-positron emission tomography
  • Functional diagnosis
  • Glycogen storage disease type I

ASJC Scopus subject areas

  • Radiology Nuclear Medicine and imaging

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