ACADM

Role in the organism:

The enzyme encoded by the ACADM gene catalyzes the first step in oxidation of medium-length fatty acids (M). Therefore, this enzyme plays a central role in fat metabolism.

Role in the disorder (state):

Medium-chain acyl-coenzyme A dehydrogenase deficiency (MCADD) is an inherited metabolic disorder that prevents the body from converting certain fats to energy, particularly during periods without food (fasting). People with MCADD do not have enough of an enzyme needed to metabolize a group of fats called medium-chain fatty acids. Signs and symptoms usually begin by early childhood and may include vomiting, lack of energy, and low blood sugar (hypoglycemia). Symptoms can be triggered by periods of fasting or by illnesses. MCADD is caused by mutations in the ACADM gene and inheritance is autosomal recessive. Treatment includes strict avoidance of fasting and avoidance of medium chain triglycerides in the diet. A lack of acyl coenzyme A dehydrogenase causes increased levels of fatty acids in the liver and their excretion in the urine. Clinical symptoms are: hypoglycemia (low blood sugar), lethargy, coma, seizures, breathing difficulties, liver problems, brain damage, coma ... A number of cases of sudden baby death are associated with this defect.