Methylmalonic aciduria cblA type

Common Name(s)

Methylmalonic aciduria cblA type

Methylmalonic aciduria is a genetically heterogeneous disorder of methylmalonate and cobalamin (cbl; vitamin B12) metabolism. Different forms of isolated methylmalonic aciduria have been classified according to complementation groups of cells in vitro. Patients with defects in the synthesis of AdoCbl are usually responsive to vitamin B12 therapy and are classified as 'cbl' type: these include cblA and cblB ({251110}), which is caused by mutation in the MMAB gene ({607568}) on 12q24. See also cblH ({277410}), which may be a subset of cblA. The 'mut' form of MMA ({251000}) is caused by mutation in the MUT gene on chromosome 6p. In general, the mut form of MMA is unresponsive to vitamin B12 therapy. Combined methylmalonic aciduria and homocystinuria may be seen in complementation groups cblC ({277400}), cblD ({277410}), cblF ({277380}), and cblJ ({614857}).
 

Advocacy and Support Organizations

 

Condition Specific Organizations

Following organizations serve the condition "Methylmalonic aciduria cblA type" for support, advocacy or research.

Organic Acidemia Association

The Organic Acidemia Association is a volunteer non-profit organization whose mission is to empower families and health care professionals with knowledge in organic acidemia metabolic disorders. We support early intervention through expanded newborn screening, solicit contributions and distribute funding that supports research toward improved treatment and eventual cures in the areas of Organic Acid disorders.

Last Updated: 18 Mar 2013

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Advocacy and Support Organizations

 

Condition Specific Organizations

Following organizations serve the condition "Methylmalonic aciduria cblA type" for support, advocacy or research.

Organic Acidemia Association

The Organic Acidemia Association is a volunteer non-profit organization whose mission is to empower families and health care professionals with knowledge in organic acidemia metabolic disorders. We support early intervention through expanded newborn screening, solicit contributions and distribute funding that supports research toward improved treatment and eventual cures in the areas of Organic Acid disorders.

www.oaanews.org

Last Updated: 18 Mar 2013

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Scientific Literature

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Research articles describe the outcome of a single study. They are the published results of original research.
The terms "Methylmalonic aciduria cblA type" returned 0 free, full-text research articles on human participants.

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The terms "Methylmalonic aciduria cblA type" returned 0 free, full-text review articles on human participants.

 
 
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There are currently no open clinical trials for this condition.