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

@article{Moolenaar1999DefectID,
  title={Defect in dimethylglycine dehydrogenase, a new inborn error of metabolism: NMR spectroscopy study.},
  author={Sytske H Moolenaar and Jos{\'e}phine Poggi-Bach and Udo F. H. Engelke and J M Corstiaensen and Arend Heerschap and Jan G N de Jong and B A Binzak and Joseph G Vockley and Ron A Wevers},
  journal={Clinical chemistry},
  year={1999},
  volume={45 4},
  pages={459-64}
}
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… CONTINUE READING

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Nuclear-encoded defects of the mitochondrial respiratory chain, including glutaric acidemia type II

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