Homocystinuria, cbID type, variant 1

Common Name(s)

Homocystinuria, cbID type, variant 1

Combined methylmalonic aciduria (MMA) and homocystinuria is a genetically heterogeneous disorder of cobalamin (cbl; vitamin B12) metabolism. The defect causes decreased levels of the coenzymes adenosylcobalamin (AdoCbl) and methylcobalamin (MeCbl), which results in decreased activity of the respective enzymes methylmalonyl-CoA mutase (MUT; {609058}) and methyltetrahydrofolate:homocysteine methyltransferase, also known as methionine synthase (MTR; {156570}). Different forms of the disorder have been classified according to complementation groups of cells in vitro: cblC ({277400}), cblD, and cblF ({277380}). Isolated methylmalonic acidurias have also been classified by complementation groups: MMA 'mut' ({251000}), caused by mutation in the MUT gene on chromosome 6p21; MMA cblA ({251100}), caused by mutation in the MMAA gene ({607481}) on 4q31; and MMA cblB ({251110}), caused by mutation in the MMAB gene ({607568}) on 12q24. Another form of isolated MMA ({613646}) can be caused by defect in the transcobalamin receptor (CD320; {606475}).
 

Advocacy and Support Organizations

 

Condition Specific Organizations

Following organizations serve the condition "Homocystinuria, cbID type, variant 1" 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 "Homocystinuria, cbID type, variant 1" 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 "Homocystinuria, cbID type, variant 1" returned 0 free, full-text research articles on human participants.

Reviews from the PubMed Database

Review articles summarize what is currently known about a disease. They discuss research previously published by others.
The terms "Homocystinuria, cbID type, variant 1" returned 0 free, full-text review articles on human participants.

 
 
Top

Symptoms, Diagnosis, and Treatment

There are currently no related results available in Genetics Home Reference.

There are currently no related results available in GeneReviews.

 
 
Top

Clinical Trial Information This information is provided by ClinicalTrials.gov

There are currently no open clinical trials for this condition.