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Impaired ketogenesis in fructose-1,6-bisphosphatase deficiency: a pitfall in the investigation of hypoglycaemia.

A A Morris, S Deshphande, M P Ward-Platt, A E Whitfield, A Aynsley-Green, J V Leonard, M Pourfarzam, K Bartlett
Journal of Inherited Metabolic Disease 1995
Intermediary metabolite concentrations were measured in blood during fasting in two patients with fructose-1,6-bisphosphatase deficiency. Hypoglycaemia was accompanied by markedly raised levels of plasma free fatty acids, without the expected degree of ketosis. This suggests that there is secondary impairment of ketogenesis in this condition, and could lead to diagnostic confusion.

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