3-Hydroxy-3-methylglutaryl-CoA lyase deficiency studied using 2-dimensional proton nuclear magnetic resonance...

1H-NMR spectroscopy has been applied to identify components in the urine of subjects with a deficiency of the enzyme 3-hydroxy-3-methylglutaryl-CoA lyase. One-dimensional spectra of samples from a pair of non-identical twins with this disorder were very similar and are probably diagnostic. The most intense signals were from singlets. Complete assignment of these major components was made possible by the use of 2-dimensional chemical shift correlated spectroscopy since several long-range couplings were detected. 2-dimensional spectroscopic techniques may therefore be of value in the identification of singlets in multicomponent systems.