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

A A Morris; S Deshphande; M P Ward-Platt; A E Whitfield; A Aynsley-Green; J V Leonard; M Pourfarzam; K Bartlett

doi:10.1007/BF00711369

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

J Inherit Metab Dis. 1995;18(1):28-32. doi: 10.1007/BF00711369.

Authors

A A Morris¹, S Deshphande, M P Ward-Platt, A E Whitfield, A Aynsley-Green, J V Leonard, M Pourfarzam, K Bartlett

Affiliation

¹ Department of Child Health, Medical School, University of Newcastle upon Tyne, UK.

PMID: 7623439
DOI: 10.1007/BF00711369

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.

Publication types

Case Reports
Research Support, Non-U.S. Gov't

MeSH terms

3-Hydroxybutyric Acid
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*

Substances

Fatty Acids, Nonesterified
Hydroxybutyrates
3-Hydroxybutyric Acid