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

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.