Defective MTRR causes methylmalonic aciduria and homocystinuria type cblE

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R-HSA-3359467
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Homo sapiens
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Defects in MTRR cause methylcobalamin deficiency type E (cblE; methionine synthase reductase deficiency; MIM:236270) (Wilson et al. 1999). Patients with cblE exhibit megaloblastic anemia and hyperhomocysteinemia. SAM is used as a methyl donor in many biological reactions and demethylation of SAM produces S-adenosylhomocysteine, which is deadenosylated to form homocysteine. Homocysteine remethylation is carried out by MTR, which requires MTRR to maintain enzyme-bound cobalamin (Cbl) in its active form; but in cblE patients, MTR becomes inactivated and thus homocysteine accumulates.

Literature References
PubMed ID Title Journal Year
10484769 Molecular basis for methionine synthase reductase deficiency in patients belonging to the cblE complementation group of disorders in folate/cobalamin metabolism

Wilson, A, Leclerc, D, Rosenblatt, DS, Gravel, RA

Hum. Mol. Genet. 1999
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