Disease
MCAD Deficiency
Medium-chain acyl-CoA dehydrogenase deficiency
ACADM variants impair the first dehydrogenation step for medium-chain fatty-acid oxidation.
MEDLINEPLUS GENETICS IDENTIFIERMCAD deficiencyView source record ↗
Overview
EXPLORE BY LEVELDuring fasting, many tissues use stored fat. MCAD is one A protein that speeds up a chemical reaction in a cell. needed to break down medium-length fatty acids. Reduced activity can make it harder to use that fuel during fasting or illness.
Quick Facts
AT A GLANCEAssociated genesACADM
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Recommended Reading
Trusted references for learning more about MCAD Deficiency.
Research Claims
MCAD deficiency is an inherited fatty-acid oxidation disorder with variable residual activity and clinical expression. Newborn screening and clinical management are outside this educational pathway record.