About MCAD Deficiency
MCAD deficiency is the most common fatty acid oxidation disorder, caused by mutations in the ACADM gene encoding medium-chain acyl-CoA dehydrogenase, which is required for mitochondrial oxidation of medium-chain fatty acids. During fasting or metabolic stress, patients cannot produce ketones from fatty acids, leading to hypoketotic hypoglycemia, encephalopathy, and potentially fatal metabolic crises. Newborn screening has dramatically reduced mortality; most patients identified by screening do well with fasting avoidance.
Common Clinical Features
Clinical Trial Eligibility Tips
What to know before applying to MCAD Deficiency trials.
Newborn screening detection is now near-universal in developed countries — document screening card results and ACADM variant classification
C8 (octanoylcarnitine) level on acylcarnitine profile is the primary diagnostic biomarker
Most trials focus on natural history, outcomes research, and emergency protocol optimization rather than pharmacological intervention
Patients with documented metabolic crises despite fasting avoidance are the primary population for interventional trials
Patient Resources
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