title: Impaired ketogenesis in fructose-1,6-bisphosphatase deficiency: a pitfall in the investigation of hypoglycaemia.
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.
authors.affiliation: Department of Child Health, Medical School, University of Newcastle upon Tyne, UK.
authors.forename: A A
authors.initials: AA
authors.lastname: Morris
authors.forename: S
authors.initials: S
authors.lastname: Deshphande
authors.forename: M P
authors.initials: MP
authors.lastname: Ward-Platt
authors.forename: A E
authors.initials: AE
authors.lastname: Whitfield
authors.forename: A
authors.initials: A
authors.lastname: Aynsley-Green
authors.forename: J V
authors.initials: JV
authors.lastname: Leonard
authors.forename: M
authors.initials: M
authors.lastname: Pourfarzam
authors.forename: K
authors.initials: K
authors.lastname: Bartlett
mesh_terms: D020155:3-Hydroxybutyric Acid; D005230:Fatty Acids, Nonesterified / Q000097:blood; D005260:Female; D015319:Fructose-1,6-Diphosphatase Deficiency / Q000235:genetics* / Q000378:metabolism*; D005943:Gluconeogenesis / Q000235:genetics; D006801:Humans; D006885:Hydroxybutyrates / Q000097:blood; D007003:Hypoglycemia / Q000175:diagnosis / Q000235:genetics* / Q000378:metabolism*; D007223:Infant; D007231:Infant, Newborn; D007662:Ketosis / Q000175:diagnosis / Q000235:genetics* / Q000378:metabolism*
chemical_list: D005230:Fatty Acids, Nonesterified; D006885:Hydroxybutyrates; D020155:3-Hydroxybutyric Acid