Cloning of dimethylglycine dehydrogenase and a new human inborn error of metabolism, dimethylglycine dehydrogenase deficiency.

Dimethylglycine dehydrogenase (DMGDH) (E.C. number 1.

Structure and analysis of the human dimethylglycine dehydrogenase gene.

Dimethylglycine dehydrogenase (DMGDH; E.C. 1.

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

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.