A review of fatty acid oxidation disorder mouse models

Shannon J. Babcock, Sander M. Houten, Melanie B. Gillingham

Research output: Contribution to journalReview articlepeer-review

Abstract

Fatty acid oxidation disorders (FAODs) are a family of rare, genetic disorders that affect any part of the fatty acid oxidation pathway. Patients present with severe phenotypes, such as hypoketotic hypoglycemia, cardiomyopathy, and rhabdomyolysis, and currently manage these symptoms by the avoidance of fasting and maintaining a low-fat, high-carbohydrate diet. Because knowledge about FAODs is limited due to the small number of patients, rodent models have been crucial in learning more about these disorders, particularly in studying the molecular mechanisms involved in different phenotypes and in evaluating treatments for patients. The purpose of this review is to present the different FAOD mouse models and highlight the benefits and limitations of using these models. Specifically, we discuss the phenotypes of the available FAOD mouse models, the potential molecular causes of prominent FAOD phenotypes that have been studied using FAOD mouse models, and how FAOD mouse models have been used to evaluate treatments for patients.

Original languageEnglish
Article number108351
JournalMolecular Genetics and Metabolism
Volume142
Issue number1
DOIs
StatePublished - May 2024

Keywords

  • Cardiomyopathy
  • Exercise
  • Fatty acid β-oxidation
  • Gene addition
  • Hypoglycemia
  • Inborn errors of metabolism
  • Mouse models

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