methylmalonic acidaemiamedical dictionary

<biochemistry> A group of inherited metabolic disorders that result in the accumulation of methylmalonic acid in the bloodstream. This leads to a severe metabolic acidosis (and ketosis) that can be fatal. A defect in the metabolic pathway of methylmalonic acid, vitamin B12 and succinic acid is the underlying cause. An infection can trigger a bout of acidosis. A low protein diet is essential in these patients. Occasionally large doses of vitamin B12 or an alkalinising agent (bicarbonate) will be necessary to treat acute exacerbations of acidosis.

Origin: Gr. Haima = blood

American spelling: methylmalonic acidemia

(27 Sep 1997)