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

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 se...

Ausführliche Beschreibung

Gespeichert in:

Bibliographische Detailangaben
Veröffentlicht in:	Journal of inherited metabolic disease 1995-01, Vol.18 (1), p.28-32
Hauptverfasser:	Morris, A. A. M., Deshpande, S., Ward‐Platt, M. P., Whitfield, A. E., Aynsley‐Green, A., Leonard, J. V., Pourfarzam, M., Bartlett, K.
Format:	Artikel
Sprache:	eng
Schlagworte:	3-Hydroxybutyric Acid Biological and medical sciences Carbohydrates (enzymatic deficiencies). Glycogenosis Errors of metabolism Fatty Acids, Nonesterified - blood Female Fructose-1,6-Diphosphatase Deficiency - genetics Fructose-1,6-Diphosphatase Deficiency - metabolism Gluconeogenesis - genetics Humans Hydroxybutyrates - blood Hypoglycemia - diagnosis Hypoglycemia - genetics Hypoglycemia - metabolism Infant Infant, Newborn Ketosis - diagnosis Ketosis - genetics Ketosis - metabolism Medical sciences Metabolic diseases
Online-Zugang:	Volltext
Tags:	Tag hinzufügen Keine Tags, Fügen Sie den ersten Tag hinzu!

Beschreibung
Zusammenfassung:	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.
ISSN:	0141-8955 1573-2665
DOI:	10.1007/BF00711369