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Hoffmann, R. A wiki for the life sciences where authorship matters. Nature Genetics (2008)
 
 
 

Defect in dimethylglycine dehydrogenase, a new inborn error of metabolism: NMR spectroscopy study.

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 approximately 100-fold in the serum and approximately 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.[1]

References

  1. Defect in dimethylglycine dehydrogenase, a new inborn error of metabolism: NMR spectroscopy study. Moolenaar, S.H., Poggi-Bach, J., Engelke, U.F., Corstiaensen, J.M., Heerschap, A., de Jong, J.G., Binzak, B.A., Vockley, J., Wevers, R.A. Clin. Chem. (1999) [Pubmed]
 
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