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Journal of Inherited Metabolic Disease

, Volume 18, Issue 1, pp 28–32 | Cite as

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

  • A. A. M. Morris
  • S. Deshpande
  • M. P. Ward-Platt
  • A. E. Whitfield
  • A. Aynsley-Green
  • J. V. Leonard
  • M. Pourfarzam
  • K. Bartlett
Article

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.

Keywords

Public Health Internal Medicine Free Fatty Acid Metabolite Concentration Plasma Free Fatty Acid 
These keywords were added by machine and not by the authors. This process is experimental and the keywords may be updated as the learning algorithm improves.

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References

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Copyright information

© Society for the Study of Inborn Errors of Metabolism and Kluwer Academic Publishers 1995

Authors and Affiliations

  • A. A. M. Morris
    • 1
  • S. Deshpande
    • 1
  • M. P. Ward-Platt
    • 1
  • A. E. Whitfield
    • 2
  • A. Aynsley-Green
    • 2
  • J. V. Leonard
    • 2
  • M. Pourfarzam
    • 1
  • K. Bartlett
    • 1
  1. 1.Department of Child Health, The Medical SchoolUniversity of Newcastle upon TyneNewcastle upon TyneUK
  2. 2.Institute of Child HealthLondonUK

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