MCADD | medium chain acyl CoA dehydrogenase deficiency
Description
MCAD deficiency is a fatty acid oxidation disorder. It is a hereditary disease that is caused by a missing enzyme needed to convert fat into energy. Children with MCAD deficiency therefore cannot fast for very long without developing hypoglycaemia, which can cause brain damage or even death. This is because they cannot use fat and hence ketones as an alternative energy source as the glucose available to them runs low.
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(This isn’t individual medical advice, please use your own clinical judgement and local guidelines when caring for your patients)
United States
