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Fructose-1,6-bisphosphatase deficiency
Affiliations- Department of Paediatrics, Mianyang Central Hospital, School of Medicine, University of Electronics Science and Technology of China, Mianyang, China
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Abstract
Not required for Clinical Vignette.
Abstract
Not required for Clinical Vignette.
Keywords
fructose-1,6-bisphosphatase (FBPase) deficiency; hypoglycaemia; hyperlactic acidaemia; acidosis
About this articleTitle
Fructose-1,6-bisphosphatase deficiency
Journal
Issue
Article type
Clinical vignette
Pages
911-912
Published online
2022-07-27
Page views
4145
Article views/downloads
534
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
References (4)- 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.
