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Methylmalonic aciduria

From SNPedia

Methylmalonic aciduria, also known as methylmalonic acidemia, is an inherited disorder in which the body is unable to process certain proteins and fats (lipids) properly. The effects of methylmalonic acidemia, which usually appear in early infancy, vary from mild to life-threatening.GeneReviews

Mutations in the MUT, MMAA, MMAB, MMADHC, and MCEE genes cause methylmalonic acidemia. The long term effects of methylmalonic acidemia depend on which gene is mutated and the severity of the mutation. About 60 percent of methylmalonic acidemia cases are caused by mutations in the MUT gene.GHR

A famous case in the US in the early 1990's involved the prosecution of a woman, Patricia Stallings, for the poisoning of at least one of her children, allegedly by feeding the baby antifreeze. The baby was eventually diagnosed with methylmalonic aciduria (MMA), which in the body produces propionic acid, a compound that differs from ethylene glycol (antifreeze) by one carbon atom, and eventually the mother was released from jail. The Stallings case continues to be cited as an extreme case of a metabolic disorder that mimics a criminal act.Wikipedia