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http://purl.uniprot.org/citations/10102904http://www.w3.org/1999/02/22-rdf-syntax-ns#typehttp://purl.uniprot.org/core/Journal_Citation
http://purl.uniprot.org/citations/10102904http://www.w3.org/1999/02/22-rdf-syntax-ns#typehttp://purl.uniprot.org/core/Journal_Citation
http://purl.uniprot.org/citations/10102904http://www.w3.org/2000/01/rdf-schema#comment"

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."xsd:string
http://purl.uniprot.org/citations/10102904http://purl.uniprot.org/core/author"Wevers R.A."xsd:string
http://purl.uniprot.org/citations/10102904http://purl.uniprot.org/core/author"Wevers R.A."xsd:string
http://purl.uniprot.org/citations/10102904http://purl.uniprot.org/core/author"Vockley J."xsd:string
http://purl.uniprot.org/citations/10102904http://purl.uniprot.org/core/author"Vockley J."xsd:string
http://purl.uniprot.org/citations/10102904http://purl.uniprot.org/core/author"Engelke U.F.H."xsd:string
http://purl.uniprot.org/citations/10102904http://purl.uniprot.org/core/author"Engelke U.F.H."xsd:string
http://purl.uniprot.org/citations/10102904http://purl.uniprot.org/core/author"Poggi-Bach J."xsd:string
http://purl.uniprot.org/citations/10102904http://purl.uniprot.org/core/author"Poggi-Bach J."xsd:string
http://purl.uniprot.org/citations/10102904http://purl.uniprot.org/core/author"de Jong J.G.N."xsd:string
http://purl.uniprot.org/citations/10102904http://purl.uniprot.org/core/author"de Jong J.G.N."xsd:string
http://purl.uniprot.org/citations/10102904http://purl.uniprot.org/core/author"Binzak B.A."xsd:string
http://purl.uniprot.org/citations/10102904http://purl.uniprot.org/core/author"Binzak B.A."xsd:string
http://purl.uniprot.org/citations/10102904http://purl.uniprot.org/core/author"Corstiaensen J.M.B."xsd:string
http://purl.uniprot.org/citations/10102904http://purl.uniprot.org/core/author"Corstiaensen J.M.B."xsd:string
http://purl.uniprot.org/citations/10102904http://purl.uniprot.org/core/author"Heerschap A."xsd:string
http://purl.uniprot.org/citations/10102904http://purl.uniprot.org/core/author"Heerschap A."xsd:string
http://purl.uniprot.org/citations/10102904http://purl.uniprot.org/core/author"Moolenaar S.H."xsd:string
http://purl.uniprot.org/citations/10102904http://purl.uniprot.org/core/author"Moolenaar S.H."xsd:string
http://purl.uniprot.org/citations/10102904http://purl.uniprot.org/core/date"1999"xsd:gYear
http://purl.uniprot.org/citations/10102904http://purl.uniprot.org/core/date"1999"xsd:gYear
http://purl.uniprot.org/citations/10102904http://purl.uniprot.org/core/name"Clin. Chem."xsd:string
http://purl.uniprot.org/citations/10102904http://purl.uniprot.org/core/name"Clin. Chem."xsd:string
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