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Pathway Description
Methylenetetrahydrofolate Reductase Deficiency (MTHFRD)
Mus musculus
Disease Pathway
Methylenetetrahydrofolate reductase deficiency (MTHFRD; Homocystinuria due to defect of n(5,10)-methylene THF deficiency) is caused by a defect in the MTHFR gene which codes for methylenetetrahydrofolate reductase. Methylenetetrahydrofolate reductase catalyzes the conversion of 5,10-methylenetetrahydrofolate to 5-methyltetrahydrofolate, a co-substrate for homocysteine remethylation to methionine. A defect in this enzyme results in accumulation of homocysteine and methionine in both plasma and urine. Some of the symptoms and signs include mental retardation, withdrawal, hallucinations, delusions, muscle weakness. Some patients remain asymptomatic until adulthood.
References
Methylenetetrahydrofolate Reductase Deficiency (MTHFRD) References
Fattal-Valevski A, Bassan H, Korman SH, Lerman-Sagie T, Gutman A, Harel S: Methylenetetrahydrofolate reductase deficiency: importance of early diagnosis. J Child Neurol. 2000 Aug;15(8):539-43. doi: 10.1177/088307380001500808.
Pubmed: 10961793
Dean L: Methylenetetrahydrofolate Reductase Deficiency
Pubmed: 28520345
Folate Metabolism References
Lehninger, A.L. Lehninger principles of biochemistry (4th ed.) (2005). New York: W.H Freeman.
Salway, J.G. Metabolism at a glance (3rd ed.) (2004). Alden, Mass.: Blackwell Pub.
This pathway was propagated using PathWhiz -
Pon, A. et al. Pathways with PathWhiz (2015) Nucleic Acids Res. 43(Web Server issue): W552–W559.
Propagated from PW000519
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