Medium chain acyl-CoA dehydrogenase deficiency (Q93438): Difference between revisions

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Latest revision as of 08:32, 16 August 2026

Medium chain acyl-CoA dehydrogenase (MCAD) deficiency is an inborn error of mitochondrial fatty acid oxidation, clinically characterised by acute episodes of hypoketotic hypoglycaemia with hepatomegaly (pseudo Reye syndrome), triggered by fasting or infections, which occur generally within the two first years of life. There is no muscle nor cardiac involvement.

Language	Label	Description	Also known as
default for all languages	ID_627734797
English	Medium chain acyl-CoA dehydrogenase deficiency	Medium chain acyl-CoA dehydrogenase (MCAD) deficiency is an inborn error of mitochondrial fatty acid oxidation, clinically characterised by acute episodes of hypoketotic hypoglycaemia with hepatomegaly (pseudo Reye syndrome), triggered by fasting or infections, which occur generally within the two first years of life. There is no muscle nor cardiac involvement.