Beta-oxidation cycle disorders

[Raeanne Dimick]

In these processes, there are numerous inherited defects, which typically manifest during fasting with hypoglycemia and metabolic acidosis; some cause cardiomyopathy and muscle weakness.
Beta-oxidation cycle disorders (see the table) are among the fatty acid and glycerol metabolism disorders.
See also Approach to the Patient With a Suspected Inherited Disorder of Metabolism and testing for suspected inherited disorders of metabolism.
Acetyl CoA is generated from fatty acids through repeated beta-oxidation cycles. Sets of 4 enzymes (an acyl dehydrogenase, a hydratase, a hydroxyacyl dehydrogenase, and a lyase) specific for different chain lengths (very long chain, long chain, medium chain, and short chain) are required to catabolize fatty acids completely. Inheritance for all fatty acid oxidation defects is autosomal recessive.