Diagnosis and clinical management of long-chain fatty-acid oxidation disorders: A review

Joshua J. Baker*, Barbara K. Burton

*Corresponding author for this work

Research output: Contribution to journalReview articlepeer-review

Abstract

Long-chain fatty-acid oxidation disorders (LC-FAODs) are autosomal recessive inherited metabolic conditions that occur due to a disruption in the body's ability to perform mitochondrial beta oxidation. Expanded newborn screening is widening phenotypic understanding of these disorders, as well improving our knowledge of disease incidence. Management of these disorders is focused on avoidance of fasting, dietary changes and supplementation with energy sources that bypass the metabolic block. Recent US Food and Drug Administration approval of triheptanoin has improved the outcome for affected individuals. New research into dietary modifications and novel pharmacologic therapies continues for these disorders. In this article, we review the major LC-FAODs and their clinical presentation.

Original languageEnglish (US)
Pages (from-to)108-111
Number of pages4
JournalEuropean Endocrinology
Volume17
Issue number2
DOIs
StatePublished - Nov 2021

Keywords

  • Beta oxidation
  • Inborn errors of metabolism
  • Long-chain fatty-acid oxidation disorders (LC-FAODs)
  • Newborn screening
  • Nutrition
  • Triheptanoin

ASJC Scopus subject areas

  • Endocrinology, Diabetes and Metabolism
  • Endocrinology
  • Endocrine and Autonomic Systems

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