Catalog

Medium or short chain 3-hydroxyacyl-CoA dehydrogenase deficiency

No MMS code

Link to WHO Definition

Medium or short chain 3-hydroxyacyl-CoA dehydrogenase deficiency – http://id.who.int/icd/entity/497270000

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.