D2I2.
genetic

Methylmalonic acidemia

Methylmalonic acidemias, also called methylmalonic acidurias, are a group of inherited disorders, that prevent the body from properly breaking down proteins and fats. This leads to a buildup of a toxic level of methylmalonic acid in body liquids and . Due to the disturbed branched-chain amino acids (BCAA) , they are among the classical organic acidemias.

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Plain-language summary adapted from Wikipedia. Not medical advice.