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.
Rezvani I. Defects in metabolism of amino acids. In: Kliegman RM, Behrman RE, Jenson HB, Stanton BF, eds. Nelson Textbook of Pediatrics. 18th ed. Philadelphia, Pa: Saunders Elsevier; 2007:chap 85.
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