Fatty Acid Beta-Oxidation Disorders: A Brief Review.

BACKGROUND: Mitochondrial fatty acid β-oxidation disorders (FAODs) are a heterogeneous group of defects in fatty acid transport and mitochondrial β-oxidation. They are inherited as autosomal recessive disorders and have a wide range of clinical presentations.

SUMMARY: The background information and case report provide important insight into mitochondrial FAODs. The article provides a wealth of information describing the scope of these disorders.

KEY MESSAGES: This article presents a typical case of medium chain acyl-CoA dehydrogenase deficiency and summarizes the pathophysiology, clinical presentation, diagnosis and treatment of mitochondrial FAODs.