Medium chain acyl-CoA dehydrogenase deficiency

Get in touch with RARE Concierge.

Contact RARE Concierge

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 Data version February 2024

Newly diagnosed with
Medium chain acyl-CoA dehydrogenase deficiency?

Our RARE Concierge Services Guides are available to assist you by providing information, resources and connections as you navigate your rare disease journey.

Get Concierge Help

Clinical Trials

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