Methionine synthase deficiency

Common Name(s)

Methionine synthase deficiency, Arakawa's Syndrome 2, Tetrahydrofolate-methyltransferase deficiency syndrome, N5-methylhomocysteine transferase deficiency

Description for this condition is not yet available.
 

Advocacy and Support Organizations

 

Condition Specific Organizations

Following organizations serve the condition "Methionine synthase deficiency" for support, advocacy or research.

There are currently no organizations listed in Disease InfoSearch that support this condition. Create a listing.

 

 

General Support Organizations

Not finding the support you need? Show General Support Organizations

 
 
Top

How do you compare to others with this condition?

Privately answer questions about your health. Let resources, you select, come to you.

Anonymously share and see how your answers compare with others with this condition while privately providing key pieces of information to medical researchers, disease advocacy groups, and others ONLY YOU select to help speed up cures and better alternatives.

 
 

Advocacy and Support Organizations

 

Condition Specific Organizations

Following organizations serve the condition "Methionine synthase deficiency" for support, advocacy or research.

There are currently no organizations listed in Disease InfoSearch that support this condition. Create a listing.

 

 

General Support Organizations

Not finding the support you need? Show General Support Organizations

 
 
 
 
Top

Scientific Literature

Articles from the PubMed Database

Research articles describe the outcome of a single study. They are the published results of original research.
The terms "Methionine synthase deficiency" returned 4 free, full-text research articles on human participants. First 3 results:

Hyperhomocysteinemia due to methionine synthase deficiency, cblG: structure of the MTR gene, genotype diversity, and recognition of a common mutation, P1173L.
 

Author(s): David Watkins, Ming Ru, Hye-Yeon Hwang, Caroline D Kim, Angus Murray, Noah S Philip, William Kim, Helen Legakis, Timothy Wai, John F Hilton, Bing Ge, Carole Doré, Angela Hosack, Aaron Wilson, Roy A Gravel, Barry Shane, Thomas J Hudson, David S Rosenblatt

Journal: Am. J. Hum. Genet.. 2002 Jul;71(1):143-53.

 

Mutations in the MTR gene, which encodes methionine synthase on human chromosome 1p43, result in the methylcobalamin deficiency G (cblG) disorder, which is characterized by homocystinuria, hyperhomocysteinemia, and hypomethioninemia. To investigate the molecular basis of the disorder, ...

Last Updated: 17 Jun 2002

Go To URL
Functionally null mutations in patients with the cblG-variant form of methionine synthase deficiency.
 

Author(s): A Wilson, D Leclerc, F Saberi, E Campeau, H Y Hwang, B Shane, J A Phillips, D S Rosenblatt, R A Gravel

Journal: Am. J. Hum. Genet.. 1998 Aug;63(2):409-14.

 

Methionine synthase (MS) catalyses the methylation of homocysteine to methionine and requires the vitamin B12 derivative, methylcobalamin, as cofactor. We and others have recently cloned cDNAs for MS and described mutations associated with the cblG complementation group that correspond ...

Last Updated: 24 Dec 1998

Go To URL
Defects in auxiliary redox proteins lead to functional methionine synthase deficiency.
 

Author(s): S Gulati, Z Chen, L C Brody, D S Rosenblatt, R Banerjee

Journal: J. Biol. Chem.. 1997 Aug;272(31):19171-5.

 

Methionine synthase catalyzes a methyl transfer reaction from methyltetrahydrofolate to homocysteine to form methionine and tetrahydrofolate and is dependent on methylcobalamin, a derivative of vitamin B12, for activity. Due to the lability of the intermediate, cob(I)alamin, the activity ...

Last Updated: 21 Aug 1997

Go To URL

Reviews from the PubMed Database

Review articles summarize what is currently known about a disease. They discuss research previously published by others.
The terms "Methionine synthase deficiency" returned 0 free, full-text review articles on human participants.

 
 
Top

Symptoms, Diagnosis, and Treatment

There are currently no related results available in GeneReviews.

There are currently no related results available in Genetic Testing Registry.

 
 
Top

Clinical Trial Information This information is provided by ClinicalTrials.gov

There are currently no open clinical trials for this condition.