Author(s): Rolfs, Prof. Arndt, MD, Keyfi, F., Sankian, Mojtaba, PhD, Moghaddassian, Morteza, Varasteh, Prof. Abdol Reza, MD
We report a novel mutation, including its clinical and biochemical features and genetic defects, in the MUT gene of three patients affected with isolated MMA. Read more!
Methylmalonic aciduria (MMA) is an inborn error of metabolism resulting from genetic defects in methylmalonyl-CoA mutase (MCM). We found one homozygous nucleotide change in intron 12 of the MUT gene (c.2125-3 C > G).
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