KEGG   DISEASE: Dimethylglycine dehydrogenase deficiency
Entry
H01003                      Disease                                
Name
Dimethylglycine dehydrogenase deficiency
Description
Dimethylglycine dehydrogenase deficiency (DMGDHD) is a rare autosomal recessive disorder characterized by fish odor, and unusual muscle fatigue with increased serum creatine kinase. Dimethylglycine dehydrogenase (DMGDH) is a mitochondrial matrix enzyme involved in the metabolism of choline.
Category
Inherited metabolic disorder
Brite
Human diseases in ICD-11 classification [BR:br08403]
 05 Endocrine, nutritional or metabolic diseases
  Metabolic disorders
   Inborn errors of metabolism
    5C50  Inborn errors of amino acid or other organic acid metabolism
     H01003  Dimethylglycine dehydrogenase deficiency
Pathway-based classification of diseases [BR:br08402]
 Amino acid metabolism
  nt06033  Glycine, serine and arginine metabolism
   H01003  Dimethylglycine dehydrogenase deficiency
 Cofactor/vitamin metabolism
  nt06038  Folate metabolism
   H01003  Dimethylglycine dehydrogenase deficiency
Pathway
hsa00260  Glycine, serine and threonine metabolism
Network
nt06033 Glycine, serine and arginine metabolism
nt06038 Folate metabolism
Gene
(DMGDHD) DMGDH [HSA:29958] [KO:K00315]
Other DBs
ICD-11: 5C50.7
MeSH: C565278
OMIM: 605850
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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