Genetic testing is necessary for diagnosis. Differential diagnosis This condition is sometimes mistaken for fatty acid and ketogenesis disorders such as Medium-chain acyl-coenzyme A dehydrogenase deficiency (MCAD), other long-chain fatty acid oxidation disorders such as<unk>  (CPT-II) and Reye syndrome.
Carnitine palmitoyltransferase I deficiency
Carnitine palmitoyltransferase II deficiency
Carnitine-acylcarnitine translocase deficiency
2-Methylbutyryl-CoA dehydrogenase deficiency
3-Methylcrotonyl-CoA carboxylase deficiency
Acyl-CoA oxidase deficiency
3-Hydroxyisobutyryl-CoA deacylase deficiency
Succinyl-CoA:3-oxoacid CoA transferase deficiency