Medium or short chain 3-hydroxyacyl-CoA dehydrogenase deficiency (Q92327)
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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 |
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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. |
