5th February 2024

Fatty acid oxidation disorders

These are disorders caused by a lack or deficiency of enzymes needed to metabolise lipids. This leaves the body short of energy and allows breakdown products such as Acyl-CoA to accumulate. The enzyme most commonly deficient is the medium-chain acyl-CoA dehydrogenase (MCAD). Other enzyme deficiencies include:

• short-chain acyl-CoA dehydrogenase (SCAD) deficiency
• long-chain 3-hydroxyacyl-CoA dehydrogenase (LCHAD) deficiency
• very long-chain acyl-CoA dehydrogenase (VLCAD) deficiency
• glutaric acidemia type II
• mitochondrial trifunctional protein (TFP) deficiency

Medium-chain acyl-CoA dehydrogenase (MCAD) deficiency

It is an autosomal recessive condition that prevents the body from converting certain fats to energy, particularly during fasting or periods of acute illness. Symptoms include lethargy, hypoglycaemia, vomiting, seizures, breathing difficulties, and liver problems.

It is more common in people of northern European ancestry. It can be diagnosed through newborn screening by looking at acylcarnitine levels.