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Title: Clinical and biochemical findings before and after portacaval shunt in a girl with type Ib glycogen storage disease
Authors: Corbeel, Lucien ×
Hue, L
Lederer, B
De Barsy, T
Van den Berghe, G
Devlieger, Hugo
Jaeken, Jacques
Bracke, P
Eeckels, Roger #
Issue Date: Jan-1981
Series Title: Pediatric research vol:15 issue:1 pages:58-61
Abstract: A girl presented with an important growth retardation, hepatomegaly, fasting hypoglycemia, lactic acidosis, increased serum cholesterol, triglycerides and uric acid, and increased liver glycogen (7.5%). There was no rise in blood glucose after IV galactose or fructose, but glucagon gave a delayed response. Type Ib glycogen storage disease was suggested by the low normal activity of glucose-6-phosphatase (G-6-Pase) which reached 1.8 units/g (normal, 2 to 10 units/g) and the normal activity of other glycogenolytic enzymes, measured in homogenates prepared in H2O (mean +/- S.E. in control subjects: 59% +/- 7; in type Ia GSD: 92% +/- 3). The activity of G-6-Pase measured as described above increased to 3.8 units/g of liver 1 year after PCS and 7.85 units/g of liver after 3 years. At that time, a simultaneous assay of the enzyme in a fresh, previously not frozen liver biopsy, homogenized in 0.25 M sucrose, revealed only about 29% of the activity of the same sample prepared in H2O (mean +/- S.E. in three controls: 95.8% +/- 8.9.
ISSN: 0031-3998
Publication status: published
KU Leuven publication type: IT
Appears in Collections:Section Child - Miscellaneous (-)
Section Newborn (-)
× corresponding author
# (joint) last author

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