The concentration of DMG amounted to 457 μmol/mmol creatinine in urine (reference range: 1–26) and 221 μmol/L in serum (reference range: 1–5). Addition of pure DMG to the urine sample and 13 C-NMR spectroscopy of the patient's urine and an authentic reference solution of DMG confirmed that the two singlets were caused by DMG. The 1H-NMR spectroscopy of model compounds revealed that N, N-dimethylglycine (DMG) caused these resonances. In urine and plasma NMR spectra of an adult patient with a fish odor and muscle weakness, high singlet resonances were observed at 2.93 and 3.80 ppm. Dimethylglycine dehydrogenase deficiency (OMIM: 605,850) The NMR findings in these novel diseases are briefly described below. In two other cases, the technique was strongly involved in the elucidation of the molecular defect, for example ribose 5-phosphate isomerase deficiency (OMIM: 608,611) and congenital disorder of glycosylation type IIb (OMIM: 606,056). Three novel diseases were discovered by body fluid NMR spectroscopy, for example dimethylglycine dehydrogenase deficiency (OMIM: 605,850), β-ureidopropionase deficiency (OMIM: 606,673) and a severe hypomyelination associated with increased levels of N-acetylaspartylglutamate in CSF. Novel diseases identified with body fluid NMR Wevers, in The Handbook of Metabonomics and Metabolomics, 2007 14.3.3.
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