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Impaired ketogenesis in fructose‐1,6‐bisphosphatase deficiency: a pitfall in the investigation of hypoglycaemia
Author(s) -
Morris A. A. M.,
Deshpande S.,
WardPlatt M. P.,
Whitfield A. E.,
AynsleyGreen A.,
Leonard J. V.,
Pourfarzam M.,
Bartlett K.
Publication year - 1995
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/bf00711369
Subject(s) - ketogenesis , ketosis , medicine , endocrinology , fructose , fructose 1,6 bisphosphatase , metabolite , phosphofructokinase , hypoglycemia , glycolysis , chemistry , metabolism , biochemistry , ketone bodies , diabetes mellitus
Summary 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.