DMGDH:FAD oxidatively demethylates DMGLY to SARC

Stable Identifier
R-HSA-6797653
Type
Reaction
Species
Homo sapiens
Compartment
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Mitochondrial dimethylglycine dehydrogenase (DMGDH) is an enzyme involved in the choline catabolic pathway, mediating the oxidative demethylation of dimethylglycine (DMGLY) to form sarcosine (SARC, aka methylglycine, MeGly) and formaldehyde (CH2O), an active 1-carbon unit (Binzak et al. 2000). DMGDH covalently binds one FAD cofactor per monomer. Defects in DMGDH cause DMGDH deficiency (DMGDHD; MIM:605850), a disorder characterised by a fishy odour and muscle fatigue with increased serum creatine kinase. Biochemically, increased levels of DMGLY are detected in the serum and urine (Binzak et al. 2001).

Literature References
PubMed ID Title Journal Year
10767172 Structure and analysis of the human dimethylglycine dehydrogenase gene

Vockley, JG, Jenkins, RB, Vockley, J, Binzak, BA

Mol. Genet. Metab. 2000
11231903 Cloning of dimethylglycine dehydrogenase and a new human inborn error of metabolism, dimethylglycine dehydrogenase deficiency

Moolenaar, SH, Vockley, JG, Poggi-Bach, J, Lee, YM, Hoard, HM, Vockley, J, Hwu, WL, Wevers, RA, Engelke, UF, Binzak, BA

Am. J. Hum. Genet. 2001
Participants
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Catalyst Activity

dimethylglycine dehydrogenase activity of DMGDH:FAD [mitochondrial matrix]

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