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Multiple Acyl-CoA Dehydrogenase Deficiency/Glutaric Aciduria Type II
An international team of doctors recently reported successes in using ketones to treat three children with the rare genetic disease known as multiple acyl-CoA dehydrogenase deficiency, or MADD.
Among these inborn errors are glutaric aciduria type I (18,19) (glutarate concentrations may be within reference values, whereas 3-hydroxyglutarate is present); medium-chain acyl-CoA dehydrogenase deficiency (adipate, suberate, and sebacate concentrations may be within reference values, but the presence of suberylglycine and hexanoylglycine will reveal the disorder) (20); multiple acyl-CoA dehydrogenase deficiency, particularly in its mild forms (metabolites suggesting such a disease, including ethylmalonate and glutarate, are quite variable); and 2-ketoglutarate dehydrogenase deficiency (2-ketoglutarate excretion ranges from within reference values to 10 times higher than the upper limit of the reference interval).