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Postnatal regression of glucose transport in a patient with glycogen storage disease type 1b |
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| Authors: | J. Levy M. T. Abu-Ras T. Berenstein R. Potashnik I. Meisner S. W. Moses N. Bashan |
| Affiliation: | (1) Pediatric Division, Soroka Medical Center, PO Box 151, 84101 Beer Sheva, Israel;(2) Pediatric Biochemistry Laboratory, Soroka Medical Center, PO Box 151, 84101 Beer Sheva, Israel;(3) Department of Obstetrics and Gynecology, Soroka Medical Center, PO Box 151, 84101 Beer Sheva, Israel;(4) The Faculty of Medical Sciences, Ben Gurion University of the Negev, 84101 Beer Sheva, Israel |
| Abstract: | 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. |
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