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

Abstract

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.

• Authors: S Kodama, M Sugiura, H Nakao, K Kobayashi, M Miyoshi, K Yoshii, M Komatsu, T Sakurai
• Journal: Acta paediatrica Japonica : Overseas edition (Acta Paediatr Jpn) Vol. 33 Issue 2 Pg. 139-45 (Apr 1991) ISSN: 0374-5600 [Print] Australia
• PMID: 1957637 (Publication Type: Journal Article)

Chemical References

• Propionates
• Methylmalonic Acid

Topics

• Amino Acid Metabolism, Inborn Errors (urine)
• Female
• Humans
• Infant
• Infant, Newborn
• Magnetic Resonance Spectroscopy (methods)
• Male
• Metabolism, Inborn Errors (urine)
• Methylmalonic Acid (blood)
• Propionates (blood)