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Methylmalonic acidemia is a disorder, passed down through families, in which the body cannot break down certain proteins and fats. The result is a build up of a substance called methylmalonic acid in the blood.
It is considered an inborn error of metabolism.
The disease is usually diagnosed in the first year of life. It is an autosomal recessive disorder, which means the defective gene must be passed onto the child from both parents.
About 1 in 25,000 - 48,000 babies are born with this condition. However, the actual rate may be higher, because a newborn may die before the condition is ever diagnosed. Methylmalonic acidemia affects boys and girls equally.
Arn PH. Newborn screening: current status. Health Affairs. 2007;26:559-566.
Nagarajan S, Enns GM, Millan TM, Winter S, Sarwal MM. Management of methylmalonic acidaemia by combined liver-kidney transplantation. J Inherit Metab Dis. 2005; 28(4):517-24.
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