Reactome | DMGDH:FAD oxidatively demethylates DMGLY to SARC

DMGDH:FAD oxidatively demethylates DMGLY to SARC

Stable Identifier

R-HSA-6797653

Type

Reaction [transition]

Species

Homo sapiens

Compartment

mitochondrial matrix

ReviewStatus

5/5

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DMGDH:FAD oxidatively demethylates DMGLY to SARC

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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