KEGG   VARIANT: 29958v1
Entry
29958v1                      Variant                               
Name
DMGDH deficiency
Type
Loss of function
Gene
DMGDH  dimethylglycine dehydrogenase [KO:K00315]
Organism
hsa_var Human gene variants (Homo sapiens)
Variation
mutations
OmimVar: 605849
Network
nt06033  Glycine, serine and arginine metabolism
nt06038  Folate metabolism
Disease
H01003  Dimethylglycine dehydrogenase deficiency
Reference
PMID:11231903
  Authors
Binzak BA, Wevers RA, Moolenaar SH, Lee YM, Hwu WL, Poggi-Bach J, Engelke UF, Hoard HM, Vockley JG, Vockley J
  Title
Cloning of dimethylglycine dehydrogenase and a new human inborn error of metabolism, dimethylglycine dehydrogenase deficiency.
  Journal
Am J Hum Genet 68:839-47 (2001)
DOI:10.1086/319520
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