Medium-chain acyl-CoA dehydrogenase (MCAD) deficiency

Gene
ACADM
Location
1p31
Disease
Medium-chain acyl-CoA dehydrogenase (MCAD) deficiency
Description
Medium-chain acyl- CoA dehydrogenase (MCAD) deficiency is a condition that prevents the body from converting certain fats to energy.
Signs and Symptoms
Signs and symptoms typically appear during infancy or early childhood and can include vomiting, lack of energy, and low blood sugar, seizures, breathing difficulties, liver problems, brain damage, coma, and sudden death.
Type
Fatty Acid Disorder
Category
Core

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