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Valerie Olson,Dararat Mingbunjerdsuk 대한파킨슨병및이상운동질환학회 2022 Journal Of Movement Disorders Vol.15 No.3
Methylmalonic acidemia (MMA) is a group of inherited metabolic disorders affecting methylmalonate and cobalamin (Cbl) metabolism that lead to the accumulation of methylmalonic acid, ketoacidosis, hyperammonemia, and death in severe cases. MMA is caused by mutations in the MMAA, MMAB, and MUT genes. Cobalamin B methylmalonic acidemia (Cbl B-MMA) is a type of MMA caused by mutations in the MMAB gene. Treatment of Cbl B-MMA includes cobalamin supplementation and diet modification.