Methylmalonic acidemia with homocystinuria

Common Name(s)

Methylmalonic acidemia with homocystinuria

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, cblD ({277410}), and cblF ({277380}). Isolated methylmalonic acidurias have also been classified by complementation groups: MMA 'mut' ({251000}) is caused by mutation in the MUT gene on chromosome 6p21; MMA cblA ({251100}) is caused by mutation in the MMAA gene ({607481}) on 4q31; and MMA cblB ({251110}) is caused by mutation in the MMAB gene ({607568}) on 12q24.
 

Advocacy and Support Organizations

 

Condition Specific Organizations

Following organizations serve the condition "Methylmalonic acidemia with homocystinuria" 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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Advocacy and Support Organizations

 

Condition Specific Organizations

Following organizations serve the condition "Methylmalonic acidemia with homocystinuria" 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

View Details

 

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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 acidemia with homocystinuria" returned 0 free, full-text research articles on human participants.

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The terms "Methylmalonic acidemia with homocystinuria" returned 0 free, full-text review articles on human participants.

 
 
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Clinical Trial Information This information is provided by ClinicalTrials.gov

EPI-743 in Cobalamin C Defect: Effects on Visual and Neurological Impairment
 

Status: Recruiting

Condition Summary: Methylmalonic Aciduria and Homocystinuria,Cblc Type; Genetic Disease; Retinopathy

 

Last Updated: 13 Feb 2013

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