Health Dictionary
Reliable, easy-to-read patient information on common medical conditions — written in plain language, free of jargon, and grounded in current evidence. Browse the most frequent diagnoses, understand what they mean for everyday life, and learn which steps and questions help you have a focused conversation with your doctor.
Fatty acid oxidation disorder
Introduction
Overview
Overview
Numerous genetic disorders are caused by errors in fatty acid metabolism. These disorders may be described as fatty oxidation disorders or as a lipid storage disorders, and are any one of several inborn errors of metabolism that result from enzyme defects affecting the ability of the body to oxidize fatty acids in order to produce energy within muscles, liver, and other cell types.
Some of the more common fatty acid metabolism disorders are:
Coenzyme A dehydrogenase deficiencies
Coenzyme A dehydrogenase deficiencies
- Very long-chain acyl-coenzyme A dehydrogenase deficiency (VLCAD) – Very long-chain acyl-coenzyme A dehydrogenase
- Long-chain 3-hydroxyacyl-coenzyme A dehydrogenase deficiency (LCHAD) – Long-chain 3-hydroxyacyl-coenzyme A
- Medium-chain acyl-coenzyme A dehydrogenase deficiency (MCAD) – Medium-chain acyl-coenzyme A dehydrogenase
- Short-chain acyl-coenzyme A dehydrogenase deficiency (SCAD) – Short-chain acyl-coenzyme A dehydrogenase
- 3-hydroxyacyl-coenzyme A dehydrogenase deficiency (HADH) – 3-hydroxyacyl-coenzyme A dehydrogenase
Other Coenzyme A enzyme deficiencies
Other Coenzyme A enzyme deficiencies
Carnitine related
Carnitine related
- Primary carnitine deficiency – SLC22A5 (carnitine transporter)
- Carnitine-acylcarnitine translocase deficiency – Carnitine-acylcarnitine translocase
- Carnitine palmitoyltransferase I deficiency (CPT) – Carnitine palmitoyltransferase I
- Carnitine palmitoyltransferase II deficiency (CPT) – Carnitine palmitoyltransferase II
Lipid storage
Lipid storage
Other
Other
Editor-In-Chief: C. Michael Gibson, M.S., M.D. [1]