Multiple acyl-CoA dehydrogenase deficiency (Q93446): Difference between revisions
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A deficiência múltipla de acil CoA desidrogenase, também conhecida como acidúria glutárica tipo II, é um transtorno da oxidação de ácidos graxos, de aminoácidos ramificados, lisina e ácido glutárico. A deficiência enzimática pode ser completa, causando distúrbios graves em neonatos, até incompletos (formas juvenis ou mesmo adultas) que são menos graves, com miocardiopatia progressiva ou miopatia proximal. | |||
| description / en | description / en | ||
Multiple FAD dehydrogenase deficiency, also known as glutaric aciduria type II, is a disorder of fatty acid oxidation, of branched aminoacids, lysine and glutaric acid. The enzymatic deficiency can be complete causing severe disorders in neonates, to incomplete (Juvenile, adolescent or even adult forms) that are less severe, with progressive myocardiopathy or proximal myopathy. | |||
Revision as of 08:33, 16 August 2026
Multiple FAD dehydrogenase deficiency, also known as glutaric aciduria type II, is a disorder of fatty acid oxidation, of branched aminoacids, lysine and glutaric acid. The enzymatic deficiency can be complete causing severe disorders in neonates, to incomplete (Juvenile, adolescent or even adult forms) that are less severe, with progressive myocardiopathy or proximal myopathy.
| Language | Label | Description | Also known as |
|---|---|---|---|
| default for all languages | ID_977130875 |
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| English | Multiple acyl-CoA dehydrogenase deficiency |
Multiple FAD dehydrogenase deficiency, also known as glutaric aciduria type II, is a disorder of fatty acid oxidation, of branched aminoacids, lysine and glutaric acid. The enzymatic deficiency can be complete causing severe disorders in neonates, to incomplete (Juvenile, adolescent or even adult forms) that are less severe, with progressive myocardiopathy or proximal myopathy. |
