Postnatal regression of glucose transport in a patient with glycogen storage disease type 1b
| Autor: | M. T. Abu-Ras, N. Bashan, I. Meisner, R Potashnik, J. Levy, S. W. Moses, T. Berenstein |
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| Rok vydání: | 1994 |
| Předmět: |
Male
Aging congenital hereditary and neonatal diseases and abnormalities medicine.medical_specialty Neutrophils Deoxyglucose Glycogen Storage Disease Type I In Vitro Techniques Carbohydrate metabolism Biology Internal medicine Genetics medicine Humans Glycogen storage disease Uptake rate Genetics (clinical) Fetus Infant Newborn Glucose transporter Infant nutritional and metabolic diseases Carbohydrate medicine.disease Glucose Liver metabolism Endocrinology Liver |
| Zdroj: | Journal of Inherited Metabolic Disease. 17:16-22 |
| ISSN: | 1573-2665 0141-8955 |
| DOI: | 10.1007/bf00735391 |
| Popis: | 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. |
| Databáze: | OpenAIRE |
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