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 February 2024

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Medium chain acyl-CoA dehydrogenase deficiency?

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Clinical Trials

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