Medium chain acyl-CoA dehydrogenase deficiency (Q93438): Difference between revisions
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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.
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| default for all languages | ID_627734797 |
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| 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. |
