Medium or short chain 3-hydroxyacyl-CoA dehydrogenase deficiency (Q92327): Difference between revisions

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Latest 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
default for all languages	ID_497270000
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.