Very long chain acyl-CoA dehydrogenase deficiency (Q93436): Difference between revisions
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| description / pt-br | description / pt-br | ||
A deficiência de acil-CoA desidrogenase de cadeia muito longa é um erro inato da oxidação de ácidos graxos de cadeia longa mitocondrial com apresentação variável, incluindo uma forma grave com episódios recorrentes de hipoglicemia hipocetótica, frequentemente associada a cardiomiopatia hipertrófica com derrame pericárdico, ou arritmia, que pode levar a uma parada cardiorrespiratória em neonatos ou bebês. | |||
| description / en | description / en | ||
Acyl-CoA dehydrogenase very long chain (VLCAD) deficiency is an inborn error of mitochondrial long-chain fatty acid oxidation with variable presentation including a severe form with recurrent episodes of hypoketotic hypoglycaemia, often associated with hypertrophic cardiomyopathy with pericardial effusion, or arrythmia, which can lead to a cardiorespiratory arrest in neonates or infants. | |||
Revision as of 08:32, 16 August 2026
Acyl-CoA dehydrogenase very long chain (VLCAD) deficiency is an inborn error of mitochondrial long-chain fatty acid oxidation with variable presentation including a severe form with recurrent episodes of hypoketotic hypoglycaemia, often associated with hypertrophic cardiomyopathy with pericardial effusion, or arrythmia, which can lead to a cardiorespiratory arrest in neonates or infants.
| Language | Label | Description | Also known as |
|---|---|---|---|
| default for all languages | ID_907810567 |
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| English | Very long chain acyl-CoA dehydrogenase deficiency |
Acyl-CoA dehydrogenase very long chain (VLCAD) deficiency is an inborn error of mitochondrial long-chain fatty acid oxidation with variable presentation including a severe form with recurrent episodes of hypoketotic hypoglycaemia, often associated with hypertrophic cardiomyopathy with pericardial effusion, or arrythmia, which can lead to a cardiorespiratory arrest in neonates or infants. |
