Most individuals with SBCADD are identified through newborn screening, where they present with an elevation of a five carbon acylcarnitine species. Confirmatory testing includes plasma and urine analysis to identify the carnitine and glycine conjugates of 2-methylbutyryl-CoA.
2-Methylbutyryl-CoA dehydrogenase deficiency
3-Methylcrotonyl-CoA carboxylase deficiency
Malonyl-CoA decarboxylase deficiency
3-Hydroxyisobutyryl-CoA deacylase deficiency
2,4 Dienoyl-CoA reductase deficiency
Pyruvate kinase deficiency
Succinyl-CoA:3-oxoacid CoA transferase deficiency
Glutaminase deficiency