Reactome | SARDH:FAD oxidatively demethylates SARC to Gly

SARDH:FAD oxidatively demethylates SARC to Gly

Stable Identifier

R-HSA-6797913

Type

Reaction

Species

Homo sapiens

Compartment

mitochondrial matrix

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SARDH:FAD oxidatively demethylates SARC to Gly

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Mitochondrial sarcosine dehydrogenase (SARDH) oxidatively demethylates sarcosine (SARC, aka methylglycine) to glycine (Gly) and formaldehyde (CH2O), an active 1-carbon unit (Eschenbrenner & Jorns 1999, ). SARDH requires one FAD as cofactor, which is reduced during the reaction. Defects in SARDH cause sarcosinemia (SARCOS; MIM:268900), a disorder characterised by an increased concentration of sarcosine in plasma and increased sarcosine excretion in urine. The clinical phenotypes of sarcosinemia are diverse, ranging from normal (most common) to ones associated with mental retardation, growth delay and muscular abnormalities (Bar-joseph et al. 2012).

Literature References

PubMed ID	Title	Journal	Year
10444331	Cloning and mapping of the cDNA for human sarcosine dehydrogenase, a flavoenzyme defective in patients with sarcosinemia Eschenbrenner, M, Jorns, MS	Genomics	1999
22825317	Mutations in the sarcosine dehydrogenase gene in patients with sarcosinemia Pras, E, Garnotel, R, Bar-joseph, I, Reznik-Wolf, H, Benarrosh, A, Gillery, P, Rienstein, S, Zlotnik, J, Hofliger, N, Auray-Blais, C, Dushnitzky, M, Pode-Shakked, B, Anikster, Y, Marek-Yagel, D, Goldstein, N, Abu-Horvitz, A, Dekel, M	Hum. Genet.	2012