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: 18 Jun 2015

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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: 18 Jun 2015

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General Support Organizations

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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 4 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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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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Different altered pattern expression of genes related to apoptosis in isolated methylmalonic aciduria cblB type and combined with homocystinuria cblC type.
 

Author(s): Ana Jorge-Finnigan, Alejandra Gámez, Belén Pérez, Magdalena Ugarte, Eva Richard

Journal: Biochim. Biophys. Acta. 2010 Nov;1802(11):959-67.

 

An increased reactive oxygen species (ROS) production and apoptosis rate have been associated with several disorders involved in cobalamin metabolism, including isolated methylmalonic aciduria (MMA) cblB type and MMA combined with homocystinuria (MMAHC) cblC type. Given the relevance ...

Last Updated: 20 Sep 2010

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Reviews from the PubMed Database

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

 
 
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