Fructose-1,6-bisphosphatase deficiency

Endokrynol Pol. 2022;73(5):911-912. doi: 10.5603/EP.a2022.0064. Epub 2022 Aug 16.

Authors

Cong Yi¹, Jian Xie²

Affiliations

¹ Department of Paediatrics, Mianyang Central Hospital, School of Medicine, University of Electronics Science and Technology of China, Mianyang, China. xiejianxj92@126.com.
² Department of Paediatrics, Mianyang Central Hospital, School of Medicine, University of Electronics Science and Technology of China, Mianyang, China.

PMID: 35971930
DOI: 10.5603/EP.a2022.0064

Abstract

Not required for Clinical Vignette.

Keywords: 6-bisphosphatase (FBPase) deficiency; acidosis; fructose-1; hyperlactic acidaemia; hypoglycaemia.

MeSH terms

Fructose
Fructose-1,6-Diphosphatase Deficiency*
Fructose-Bisphosphatase / genetics
Humans
Mutation

Substances

Fructose-Bisphosphatase
Fructose