1H-NMR studies of urine in propionic acidemia and methylmalonic acidemia

The present study deals with the usefulness of 1H-NMR spectroscopy in the chemical diagnosis of propionic acidemia and methylmalonic acidemia. A Varian VXR-500 spectrometer was used. 1H-NMR spectra of urine from a patient with propionic acidemia show peaks of 3-hydroxy-n-valerate, methylcitrate, propionyl glycine, 3-hydroxy-n-butyrate, lactate, 3-hydroxypropionate, tiglylglycine and hippurate. The assignment was made possible by the use of 2D COSY. The spectra from a patient with methylmalonic acidemia show methylmalonate and glycine. 1H-NMR spectroscopy has the advantages of requiring a short time for analysis, relatively small amounts of urine and no preliminary extraction.