Evaluation of 3-methylcrotonyl-CoA carboxylase
deficiency detected by tandem mass spectrometry newborn screening.
C50H is increased in 3-methylcrotonyl-CoA carboxylase
deficiency, 3-hydroxy-3-methylglutaryl-CoA lyase deficiency, and 3-methylglutaconyl-CoA hydratase deficiency, whereas 2-methyl-3-hydroxybutyrylcarnitine is increased in [beta]-ketothiolase deficiency and 2-methyl-3-hydroxybutyrl-CoA dehydrogenase deficiency (118).
beta]-ketothiolase deficiency 3-Methylcrotonylglycine 3-Methylcrotonyl-CoA carboxylase
deficiency; multiple carboxylase deficiency; HMG-CoA lyase deficiency 3-Methylglutaconate (37-42) 3-Methylglutaconyl-CoA hydratase deficiency (methylglutaconic aciduria type I); HMG-CoA lyase deficiency; 3-methylglutaconic aciduria (other than type I); respiratory chain defects (e.