Article

Characterization based on genotype–biochemical phenotype association in fructose-1,6-bisphosphatase deficiency

2022-11-02

Abstract excerpt

<title>Abstract</title> <p>Purpose Fructose-1,6-bisphosphatase (FBPase) deficiency, caused by an FBP1 mutation, is an autosomal recessive disorder characterized by hypoglycemic lactic acidosis. The mechanism by which the mutations cause enzyme activity loss is uncertain. Methods We performed whole-exome sequencing in an adult patient with severe hypoglycemic lactic acidosis and identified that the patient carri...

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Literature Corpus work: 2a928039-93ec-5002-8d34-032e6ef56151
DOI: 10.21203/rs.3.rs-2185039/v1

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