Medium chain acyl-CoA dehydrogenase deficiency (Q93438): Difference between revisions
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| description / pt-br | description / pt-br | ||
A deficiência de acil-CoA desidrogenase de cadeia média é um erro inato da oxidação de ácidos graxos mitocondriais, clinicamente caracterizado por episódios agudos de hipoglicemia com hepatomegalia (pseudo síndrome de Reye), desencadeados por jejum ou infecções, que ocorrem geralmente nos dois primeiros anos de vida. Não há envolvimento muscular nem cardíaco. | |||
| description / en | description / en | ||
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. | |||
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 |
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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. |
