Clin Chem. 1999 Apr;45(4):459-64.

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

Moolenaar SH, Poggi-Bach J, Engelke UF, Corstiaensen JM, Heerschap A, de Jong JG, Binzak BA, Vockley J, Wevers RA.

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Institute of Neurology, University Hospital Nijmegen, The Netherlands.

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 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.

PMID:: 10102904; [PubMed - indexed for MEDLINE]

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