Dimethylglycine Dehydrogenase Deficiency


Dimethylglycine Dehydrogenase Deficiency (DMGDH deficiency; Dimethylglycinuria) phenotype in the catabolism of choline, catalyzing the oxidative demethylation of dimethylglycine (DMG) to form sarcosine. A defect in DMGDH results in the accumulation of N,N-dimethylglycine and creatinine kinase in serum, and N,N-dimethylglycine in urine. Symptoms of this disease include an unusual odor and muscle weakness.

Pathway legend Zoom in

Pathway Image

Pathway legend Zoom in

References

  1. Moolenaar SH, Poggi-Bach J, Engelke UF, Corstiaensen JM, Heerschap A, de Jong JG, Binzak BA, Vockley J, Wevers RA. Defect in dimethylglycine dehydrogenase, a new inborn error of metabolism: NMR spectroscopy study. Clin Chem. 1999 Apr;45(4):459-64. “Pubmed”: http://www.ncbi.nlm.nih.gov/pubmed/10102904
  2. Binzak BA, Vockley JG, Jenkins RB, Vockley J. Structure and analysis of the human dimethylglycine dehydrogenase gene. Mol Genet Metab. 2000 Mar;69(3):181-7. Pubmed