Medium chain acyl-CoA dehydrogenase deficiency

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Medium chain acyl-CoA dehydrogenase deficiency

Synonyms: ACADM deficiency | Carnitine deficiency secondary to medium-chain acyl-CoA dehydrogenase deficiency | MCAD deficiency | MCADD | Medium chain acyl-coenzyme A dehydrogenase deficiency

Medium 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.

Data from Orphanet are used to provide information on a disease's name, synonym(s), and overview.

Reference: Access aggregated data from Orphanet at Orphadata.

Orphadata: Free access data from Orphanet. © INSERM 1999. Available on http://www.orphadata.org. Data version March 2024

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Medium chain acyl-CoA dehydrogenase deficiency?

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Advocacy Organizations

Mississippi Metabolics Foundation

Mississippi Metabolics Foundation (MMF) was founded to raise awareness, educate, and provide support to those living or caring for someone with genetic metabolic disorders/inborn errors of metabolism (IEM).

MitoAction

MitoAction’s mission is to improve the quality of life for children, adults, and families living with mitochondrial disease through support, education, outreach, advocacy, clinical research initiatives and by granting wishes for children affected by mitochondrial disease.

Clinical Trials

For a list of clinical trials in this disease area, please click here.