Gene ACADM
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Also known as
MCAD, MCADH, ACAD1Overview
ACADM (Acyl-CoA Dehydrogenase Medium Chain) encodes the medium-chain acyl-CoA dehydrogenase enzyme, which is essential for the mitochondrial beta-oxidation of medium-chain fatty acids. This metabolic pathway is critical for energy production, especially during periods of fasting or increased energy demand.Mutations in ACADM cause medium-chain acyl-CoA dehydrogenase deficiency (MCADD), one of the most common inherited disorders of fatty acid oxidation. MCADD can lead to life-threatening episodes of hypoglycemia, lethargy, and metabolic crisis, particularly during fasting or illness. Newborn screening for MCADD is now standard in many countries, allowing early detection and preventive management.
Individuals with MCADD require dietary modifications including avoiding prolonged fasting, ensuring adequate carbohydrate intake during illness, and sometimes L-carnitine supplementation. Understanding your ACADM status is crucial for preventing metabolic crises and managing energy metabolism effectively.