Author(s): Rolfs, Prof. Arndt, MD, Keyfi, F., Moghaddassian, Morteza, Varasteh, Prof. Abdol Reza, MD, Abbaszadegan, Mohammad Reza, PhD, Orolicki, Slobodanka, MD PhD
We demonstrate that the deletion in exon 4 of the MMAA gene is a pathogenic allele via a nucleotide frame shift. Read more!
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 MMAA gene. MMAA encodes the enzyme which is involved in translocation of cobalamin into the mitochondria.
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