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Postnatal regression of glucose transport in a patient with glycogen storage disease type 1b
Author(s) -
Levy J.,
AbuRas M. T.,
Berenstein T.,
Potashnik R.,
Meisner I.,
Moses S. W.,
Bashan N.
Publication year - 1994
Publication title -
journal of inherited metabolic disease
Language(s) - English
Resource type - Journals
SCImago Journal Rank - 1.462
H-Index - 102
eISSN - 1573-2665
pISSN - 0141-8955
DOI - 10.1007/bf00735391
Subject(s) - deoxyglucose , glycogen storage disease , glucose uptake , medicine , metabolic disease , glycogen storage disease type i , glycogen , endocrinology , disease , fetus , chemistry , pregnancy , biology , insulin , genetics
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 10 6 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.