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Article

Novel compound heterozygous mutations of the FBP1 gene in a patient with hypoglycemia and lactic acidosis: A case report.

Molecular genetics & genomic medicine - 1 Jan 2024

Xin Bin, Chen Haiming, Liu Tianyi, Wu Yue, Hu Qingyang, Dong Xue, Li Zhong

Abstract excerpt

BACKGROUND: Fructose-1,6-bisphosphatase (FBPase) deficiency, caused by an FBP1 mutation, is an autosomal recessively inherited metabolic disorder characterized by impaired gluconeogenesis. Due to the rarity of FBPase deficiency, the mechanism by which the mutations cause enzyme activity loss still remains unclear. METHODS: We report a pediatric patient with typical FBPase deficiency who presented with...

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Identifiers

PMID: 38111981
DOI: 10.1002/mgg3.2339
PMCID: PMC10767684

Genes

FBP1

Provenance

PubMed metadata and Literature Corpus relationships. Corpus snapshot updated 7 Sept 2026. Manifest publication-graph-cohort-2026-09-08.1.

Source receipt: pubmed, retrieved 7 Sept 2026.

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