Medium or short chain 3-hydroxyacyl-CoA dehydrogenase deficiency (Q92327): Difference between revisions
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Deficiência de 3-hidroxiacil-CoA desidrogenase é um transtorno da oxidação mitocondrial de ácidos graxos muito raro, caracterizado clinicamente por inapetência, vômitos, diarreia e letargia durante a primeira infância. Os indivíduos afetados também podem ter hipotonia, hipoglicemia e hiperinsulinismo. As complicações incluem convulsões, coma e morte súbita. | |||
| description / en | description / en | ||
3-hydroxyacyl-CoA dehydrogenase deficiency is a very rare mitochondrial fatty acid oxidation disorder characterised clinically by poor appetite, vomiting, diarrhea, and lethargy during infancy or early childhood. Affected individuals may also have hypotonia, hypoglycaemia, and hyperinsulinism. Complications include seizures, coma, and sudden death. | |||
Revision as of 07:28, 16 August 2026
3-hydroxyacyl-CoA dehydrogenase deficiency is a very rare mitochondrial fatty acid oxidation disorder characterised clinically by poor appetite, vomiting, diarrhea, and lethargy during infancy or early childhood. Affected individuals may also have hypotonia, hypoglycaemia, and hyperinsulinism. Complications include seizures, coma, and sudden death.
| Language | Label | Description | Also known as |
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| default for all languages | ID_497270000 |
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| English | Medium or short chain 3-hydroxyacyl-CoA dehydrogenase deficiency |
3-hydroxyacyl-CoA dehydrogenase deficiency is a very rare mitochondrial fatty acid oxidation disorder characterised clinically by poor appetite, vomiting, diarrhea, and lethargy during infancy or early childhood. Affected individuals may also have hypotonia, hypoglycaemia, and hyperinsulinism. Complications include seizures, coma, and sudden death. |
