Laboratory for Molecular Diagnostics
Center for Nephrology and Metabolic Disorders

Methionine synthase reductase

The MTRR gene encodes an enzyme involved in cobalamin metabolism. Mutations cause autosomal recessive homocystinuria-megaloblastic anemia cblE.

Genetests:

Clinic Method Carrier testing
Turnaround 5 days
Specimen type genomic DNA
Clinic Method Massive parallel sequencing
Turnaround 25 days
Specimen type genomic DNA
Research Method Genomic sequencing of the entire coding region
Turnaround 25 days
Specimen type genomic DNA

Related Diseases:

Homocystinuria-megaloblastic anemia cblE
MTRR

References:

1.

Doolin MT et al. (2002) Maternal genetic effects, exerted by genes involved in homocysteine remethylation, influence the risk of spina bifida.

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2.

Bosco P et al. (2003) Methionine synthase (MTR) 2756 (A --> G) polymorphism, double heterozygosity methionine synthase 2756 AG/methionine synthase reductase (MTRR) 66 AG, and elevated homocysteinemia are three risk factors for having a child with Down syndrome.

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3.

Yamada K et al. (2006) Human methionine synthase reductase is a molecular chaperone for human methionine synthase.

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4.

Rosenblatt DS et al. (1985) Prenatal vitamin B12 therapy of a fetus with methylcobalamin deficiency (cobalamin E disease).

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5.

Schuh S et al. (1984) Homocystinuria and megaloblastic anemia responsive to vitamin B12 therapy. An inborn error of metabolism due to a defect in cobalamin metabolism.

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6.

Leclerc D et al. (1998) Cloning and mapping of a cDNA for methionine synthase reductase, a flavoprotein defective in patients with homocystinuria.

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7.

Zavadakova P et al. (2002) CblE type of homocystinuria due to methionine synthase reductase deficiency: clinical and molecular studies and prenatal diagnosis in two families.

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8.

Zavadáková P et al. (2005) cblE type of homocystinuria due to methionine synthase reductase deficiency: functional correction by minigene expression.

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9.

Tauro GP et al. (1976) Dihydrofolate reductase deficiency causing megaloblastic anemia in two families.

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10.

Wilson A et al. (1999) A common variant in methionine synthase reductase combined with low cobalamin (vitamin B12) increases risk for spina bifida.

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11.

Wilson A et al. (1999) Molecular basis for methionine synthase reductase deficiency in patients belonging to the cblE complementation group of disorders in folate/cobalamin metabolism.

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12.

James SJ et al. (1999) Abnormal folate metabolism and mutation in the methylenetetrahydrofolate reductase gene may be maternal risk factors for Down syndrome.

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13.

Hobbs CA et al. (2000) Polymorphisms in genes involved in folate metabolism as maternal risk factors for Down syndrome.

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14.

O'Leary VB et al. (2005) Analysis of methionine synthase reductase polymorphisms for neural tube defects risk association.

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15.

Orphanet article

Orphanet ID 123574 [^]
16.

NCBI article

NCBI 4552 [^]
17.

OMIM.ORG article

Omim 602568 [^]
18.

Wikipedia article

Wikipedia EN (MTRR_(gene)) [^]
Update: April 29, 2019