In vitro metabolism of [2-13C]-ethanol by 1H NMR spectroscopy using 13C decoupling with the reverse dept polarization-transfer pulse sequence

1985 ◽  
Vol 128 (1) ◽  
pp. 107-112 ◽  
Author(s):  
William M. Brooks ◽  
Leith N. Moxon ◽  
James Field ◽  
Michael G. Irving ◽  
David M. Doddrell
1985 ◽  
Vol 17 (4) ◽  
pp. 471-478 ◽  
Author(s):  
Michael G. Irving ◽  
Stephen J. Simpson ◽  
William M. Brooks ◽  
Roger S. Holmes ◽  
David M. Doddrell

2002 ◽  
Vol 63 (4) ◽  
pp. 1538-1543 ◽  
Author(s):  
Jussi-Pekka Usenius ◽  
Pauli Vainio ◽  
Juha Hernesniemi ◽  
Risto A. Kauppinen

1999 ◽  
Vol 45 (4) ◽  
pp. 459-464 ◽  
Author(s):  
Sytske H Moolenaar ◽  
Jo Poggi-Bach ◽  
Udo FH Engelke ◽  
Jacqueline MB Corstiaensen ◽  
Arend Heerschap ◽  
...  

Abstract Background: A38-year-old man presented with a history of fish odor (since age 5) and unusual muscle fatigue with increased serum creatine kinase. Our aim was to identify the metabolic error in this new condition. Methods: We used 1H NMR spectroscopy to study serum and urine from the patient. Results: The concentration of N,N-dimethylglycine (DMG) was increased ∼100-fold in the serum and ∼20-fold in the urine. The presence of DMG as a storage product was confirmed by use of 13C NMR spectroscopy and gas chromatography–mass spectrometry. The high concentration of DMG was caused by a deficiency of the enzyme dimethylglycine dehydrogenase (DMGDH). A homozygous missense mutation was found in the DMGDH gene of the patient. Conclusions: DMGDH deficiency must be added to the differential diagnosis of patients complaining of a fish odor. This deficiency is the first inborn error of metabolism discovered by use of in vitro 1H NMR spectroscopy of body fluids.


Parasitology ◽  
2020 ◽  
Vol 147 (9) ◽  
pp. 1064-1064
Author(s):  
Taher Elmi ◽  
Mehdi Shafiee Ardestani ◽  
Fateme Hajialiani ◽  
Manijeh Motevalian ◽  
Maryam Mohamadi ◽  
...  

Sign in / Sign up

Export Citation Format

Share Document