Journal of Inherited Metabolic Disease

, Volume 17, Issue 1, pp 16–22 | Cite as

Postnatal regression of glucose transport in a patient with glycogen storage disease type 1b

  • J. Levy
  • M. T. Abu-Ras
  • T. Berenstein
  • R. Potashnik
  • I. Meisner
  • S. W. Moses
  • N. Bashan
Article

Summary

Decreased 2-deoxyglucose (2-DOG) uptake is well described in the neutrophils of patients with glycogen storage disease type 1b (GSD 1b). We report a patient with GSD 1b who presented with a normal antenatal and perinatal 2-deoxyglucose uptake that showed a slow regression during the first months of life. These indicate limitations of 2-deoxyglucose uptake in the diagnosis of GSD 1b. While it appears that low uptake rate below 0.25 nmol/min in 106 cells is of significance, normal uptake does not rule out the presence of the disease. It seems that antenatal diagnosis of GSD 1b cannot be made by measurement of 2-deoxyglucose uptake in the fetal neutrophils.

Keywords

Public Health Glucose Internal Medicine Uptake Rate Glucose Transport 

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Copyright information

© SSIEM and Kluwer Academic Publishers 1994

Authors and Affiliations

  • J. Levy
    • 1
  • M. T. Abu-Ras
    • 1
  • T. Berenstein
    • 1
  • R. Potashnik
    • 2
  • I. Meisner
    • 3
    • 4
  • S. W. Moses
    • 1
  • N. Bashan
    • 2
  1. 1.Pediatric DivisionSoroka Medical CenterBeer ShevaIsrael
  2. 2.Pediatric Biochemistry LaboratorySoroka Medical CenterBeer ShevaIsrael
  3. 3.Department of Obstetrics and GynecologySoroka Medical CenterBeer ShevaIsrael
  4. 4.The Faculty of Medical SciencesBen Gurion University of the NegevBeer ShevaIsrael

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