MCAD (medium chain acyl-CoA dehydrogenase) deficiency is the most common fatty oxidation defect and is inherited in an autosomal recessive fashion.
It became part of the UK newborn screening programme in 2009.
The deficient enzyme is part of the β-oxidation pathway, which is essential at times of fasting stress, thus the need for increased carbohydrate intake or IV dextrose during episodes of illness. Presentation of metabolic decompensation includes hypoketotic hypoglycaemia with lethargy and seizures.
First published: 02/07/14