Article
Clinical and metabolic phenotypes of Oxford Biobank subjects with variations in human flavin-containing monooxygenase 5 (FMO5).
Metabolomics : Official journal of the Metabolomic Society - 9 Sept 2025
Everett Jeremy R, Karpe Fredrik, Le Guennec Adrien, Neville Matt, Redfield Christina
Abstract excerpt
INTRODUCTION: Knockout of the Fmo5 gene in mice led to a lean, slow-ageing phenotype characterised by the presence of 2,3-butanediol isomers in their urine and plasma. Oral treatment of wildtype mice with 2,3-butanediol led to a low cholesterol, low epididymal fat phenotype. OBJECTIVES: Determine if significant, heterozygous coding variations in human FMO5 would give rise to similar clinical and metabolic...
Read the complete abstract on PubMedTopics
- Humans
- Female
- Phenotype
- Oxygenases
- Butylene Glycols
- Middle Aged
