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

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Abstract

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.

Original languageEnglish
Pages (from-to)16-22
Number of pages7
JournalJournal of Inherited Metabolic Disease
Volume17
Issue number1
DOIs
StatePublished - 1 Jan 1994
Externally publishedYes

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