Identification of a novel deletion in the MMAA gene in two Iranian siblings with vitamin B12-responsive methylmalonic acidemia

BACKGROUND: Adenosylcobalamin (vitamin B12) is a coenzyme required for the activity of methylmalonyl-CoA mutase. Defects in this enzyme are a cause of methylmalonic acidemia (MMA). Methylmalonic acidemia, cblA type, is an inborn error of vitamin B12 metabolism that occurs due to mutations in the MMA...

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Detalles Bibliográficos
Autores principales: Keyfi, Fatemeh, Abbaszadegan, Mohammad Reza, Rolfs, Arndt, Orolicki, Slobodanka, Moghaddassian, Morteza, Varasteh, Abdolreza
Formato: Online Artículo Texto
Lenguaje:English
Publicado: BioMed Central 2016
Materias:
Short Communication
Acceso en línea:https://www.ncbi.nlm.nih.gov/pmc/articles/PMC5415723/
https://www.ncbi.nlm.nih.gov/pubmed/28536607
http://dx.doi.org/10.1186/s11658-016-0005-1

Internet

https://www.ncbi.nlm.nih.gov/pmc/articles/PMC5415723/
https://www.ncbi.nlm.nih.gov/pubmed/28536607
http://dx.doi.org/10.1186/s11658-016-0005-1

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