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Clinical Chemistry 45: 459-464, 1999;
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(Clinical Chemistry. 1999;45:459-464.)
© 1999 American Association for Clinical Chemistry, Inc.

Articles

Defect in Dimethylglycine Dehydrogenase, a New Inborn Error of Metabolism: NMR Spectroscopy Study

Sytske H. Moolenaar, Jo Poggi-Bach1, Udo F.H. Engelke, Jacqueline M.B. Corstiaensen, Arend Heerschap, Jan G.N. de Jong, Barbara A. Binzak2, Jerry Vockley2 and Ron A. Weversa

1 Laboratoire de Biochimie 1, Hôpital Bicêtre AP-HP, Paris, France.

2 Departments of Biochemistry and Molecular Biology, and Medical Genetics, Mayo Clinic and Foundation, Rochester, MN 55905.
a Address correspondence to this author at: Institute of Neurology, PO Box 9101, 6500 HB Nijmegen, The Netherlands. Fax 31-24-3540297; e-mail R.Wevers{at}ckslkn.azn.nl

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.

© 1999 American Association for Clinical Chemistry




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