open access
Fructose-1,6-bisphosphatase deficiency
- Department of Paediatrics, Mianyang Central Hospital, School of Medicine, University of Electronics Science and Technology of China, Mianyang, China
open access
Abstract
Not required for Clinical Vignette.
Abstract
Not required for Clinical Vignette.
Keywords
fructose-1,6-bisphosphatase (FBPase) deficiency; hypoglycaemia; hyperlactic acidaemia; acidosis
Title
Fructose-1,6-bisphosphatase deficiency
Journal
Issue
Article type
Clinical vignette
Pages
911-912
Published online
2022-07-27
Page views
4124
Article views/downloads
515
DOI
Pubmed
Bibliographic record
Endokrynol Pol 2022;73(5):911-912.
Keywords
fructose-1
6-bisphosphatase (FBPase) deficiency
hypoglycaemia
hyperlactic acidaemia
acidosis
Authors
Cong Yi
Jian Xie
- Krishnamurthy V, Eschrich K, Boney A, et al. Three successful pregnancies through dietary management of fructose-1,6-bisphosphatase deficiency. J Inherit Metab Dis. 2007; 30(5): 819.
- Lebigot E, Brassier A, Zater M, et al. Fructose 1,6-bisphosphatase deficiency: clinical, biochemical and genetic features in French patients. J Inherit Metab Dis. 2015; 38(5): 881–887.
- Li N, Chang G, Xu Y, et al. Clinical and Molecular Characterization of Patients with Fructose 1,6-Bisphosphatase Deficiency. Int J Mol Sci. 2017; 18(4).
- Kato S, Nakajima Y, Awaya R, et al. Pitfall in the Diagnosis of Fructose-1,6-Bisphosphatase Deficiency: Difficulty in Detecting Glycerol-3-Phosphate with Solvent Extraction in Urinary GC/MS Analysis. Tohoku J Exp Med. 2015; 237(3): 235–239.