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.
Kodama
S
S
Department of Pediatrics, Himeji Red Cross Hospital, Japan.
Sugiura
M
M
Nakao
H
H
Kobayashi
K
K
Miyoshi
M
M
Yoshii
K
K
Komatsu
M
M
Sakurai
T
T
D000592:Amino Acid Metabolism, Inborn Errors / Q000652:urine*; D005260:Female; D006801:Humans; D007223:Infant; D007231:Infant, Newborn; D009682:Magnetic Resonance Spectroscopy / Q000379:methods*; D008297:Male; D008661:Metabolism, Inborn Errors / Q000652:urine*; D008764:Methylmalonic Acid / Q000097:blood*; D011422:Propionates / Q000097:blood*
D011422:Propionates; D008764:Methylmalonic Acid