Novel fructose-1,6-bisphosphatase gene mutation in two siblings.

Abstract excerpt

Fructose-1,6-bisphosphatase (FBPase) deficiency is an autosomal, recessively inherited disease that progresses with severe hypoglycemia, and metabolic attacks result in a defect in gluconeogenesis. If not appropriately treated, and if fructose is not excluded from the diet, the outcome could be fatal. Two Turkish children with FBPase deficiency were diagnosed based on mutation of the FBP1 gene. The first, a...

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