Condition: Dimethylglycine Dehydrogenase Deficiency


rs121908331 in DMGDH gene and Dimethylglycine Dehydrogenase Deficiency PMID 27486859 2016 Structure and biochemical properties of recombinant human dimethylglycine dehydrogenase and comparison to the disease-related H109R variant.

PMID 11231903 2001 Cloning of dimethylglycine dehydrogenase and a new human inborn error of metabolism, dimethylglycine dehydrogenase deficiency.