Publication:

Impaired ketogenesis in fructose 1,6-bisphosphatase deficiency: a pitfall in the investigation of hypoglycaemia. (1995)

Author(s): Morris AAM, Deshpande S, Ward-Platt MP, Whitfield E, Aynsley -Green A, Leonard JV, Pourfarzan M, Bartlett K.

    Abstract: 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.

      • Journal: Journal of Inherited Metabolic Disease
      • Volume: 18
      • Pages: 28-32
      • Publication type: Article
      • Bibliographic status: Published
      • PubMed id: 7623439
      Staff

      Dr Martin Ward Platt
      Honorary Clinical Reader in Neonatal and Paediatric Medicine