Medium chain acyl-CoA dehydrogenase deficiency
MONDO:0008721Medium chain acyl-CoA dehydrogenase (MCAD) deficiency (MCADD) is an inborn error of mitochondrial fatty acid oxidation characterized by a rapidly progressive metabolic crisis, often presenting as hypoketotic hypoglycemia, lethargy, vomiting, seizures and coma, which can be fatal in the absence of emergency medical intervention.
Also known as: ACADM deficiency, Acyl-CoA dehydrogenase, medium chain, deficiency of, Carnitine deficiency secondary to medium-chain acyl-CoA dehydrogenase deficiency, MCAD, MCAD deficiency, MCADD, acyl-CoA dehydrogenase, medium-chain deficiency, medium chain acyl-CoA dehydrogenase deficiency
7 clinical trials for this condition and its sub-types, 7 tagged with Medium chain acyl-CoA dehydrogenase deficiency itself.
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Could a liver drug help kids and adults with rare metabolic disorder?
Disease control Recruiting nowThis study tests whether sodium phenylbutyrate (ACER-001), a drug already approved for another condition, can help people with MCAD deficiency caused by a specific gene mutation. About 24 participants aged 4 and older will take the drug and be monitored for safety and how well it…
Phase 2 • Sponsor: Jerry Vockley, MD, PhD • Aim: Disease control
Last updated Jun 27, 2026 13:05 UTC
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Fatty acid study aims to unlock secrets of rare metabolic disease
Knowledge-focused Recruiting nowThis study looks at how medium-chain and long-chain fatty acids affect metabolism in people with Medium-Chain Acyl-CoA Dehydrogenase Deficiency (MCADD) and healthy individuals. Researchers will measure ketone bodies, resting metabolic rate, and other factors after participants co…
Sponsor: University of Copenhagen • Aim: Knowledge-focused
Last updated Aug 16, 2026 00:00 UTC