Methylmalonic aciduria cblB type

Common Name(s)

Methylmalonic aciduria cblB 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 cblB and cblA ({251100}). The cblA type is caused by mutation in the MMAA gene ({607481}). The 'mut' type ({251000}) is caused by mutation in the MUT gene; 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}), and cblF ({277380}).
 

Advocacy and Support Organizations

 

Condition Specific Organizations

Following organizations serve the condition "Methylmalonic aciduria cblB 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: 12 Jul 2016

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Advocacy and Support Organizations

 

Condition Specific Organizations

Following organizations serve the condition "Methylmalonic aciduria cblB 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: 12 Jul 2016

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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 "Methylmalonic aciduria cblB type" returned 5 free, full-text research articles on human participants. First 3 results:

[A Chinese boy with methylmalonic aciduria cblB type and a novel mutation in the MMAB gene].
 

Author(s): Yu-Peng Liu, Hai-Jun Wang, Tong-Fei Wu, Xi-Yuan Li, Jin-Qing Song, Yuan Ding, Yao Zhang, Qiao Wang, Yan-Ling Yang

Journal: Zhongguo Dang Dai Er Ke Za Zhi. 2015 Feb;17(2):172-5.

 

cblB defect is a rare type of methylmalonic aciduria. In this study, a Chinese boy was diagnosed with methylmalonic aciduria cblB type and a novel mutation in the MMAB gene. The clinical presentations, blood acylcarnitines profiles, urine organic acids and genetic features of the ...

Last Updated: 12 Mar 2015

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Methylmalonic aciduria cblB type: characterization of two novel mutations and mitochondrial dysfunction studies.
 

Author(s): S Brasil, E Richard, A Jorge-Finnigan, F Leal, B Merinero, R Banerjee, L R Desviat, M Ugarte, B Pérez

Journal: Clin. Genet.. 2015 Jun;87(6):576-81.

 

Methylmalonic aciduria (MMA) cblB type is caused by mutations in the MMAB gene, which codes for the enzyme adenosine triphosphate (ATP): cobalamin adenosyltransferase (ATR). This study reports differences in the metabolic and disease outcomes of two pairs of siblings with MMA cblB ...

Last Updated: 5 May 2015

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Pharmacological chaperones as a potential therapeutic option in methylmalonic aciduria cblB type.
 

Author(s): Ana Jorge-Finnigan, Sandra Brasil, Jarl Underhaug, Pedro Ruíz-Sala, Begoña Merinero, Ruma Banerjee, Lourdes R Desviat, Magdalena Ugarte, Aurora Martinez, Belén Pérez

Journal: Hum. Mol. Genet.. 2013 Sep;22(18):3680-9.

 

Methylmalonic aciduria (MMA) cblB type is caused by mutations in the MMAB gene. This encodes the enzyme ATP:cob(I)alamin adenosyltransferase (ATR), which converts reduced cob(I)alamin to an active adenosylcobalamin cofactor. We recently reported the presence of destabilizing pathogenic ...

Last Updated: 23 Aug 2013

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Reviews from the PubMed Database

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

 
 
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Symptoms, Diagnosis, and Treatment

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