Methylmalonic acidemia

Methylmalonic acidemia is an inherited disorder that is usually diagnosed in infancy. It causes the accumulation of methylmalonic acid in the body and can lead to severe metabolic problems.

People with this disease can't change, or "metabolize,"an enzyme called methymalonyl-coenzyme A. The result isa buildup of methylmalonic acid in the body.

The disease is usually diagnosed in the first year of life. It is an autosomal recessive disorder, which means the defective gene mustbe inherited from both parents.About 1 in 25,000- 48,000 babies are born with this condition. The true rate of occurrence of the disease may be higher, because many newborn may die from an undiagnosed case. Both boys and girls are equally affected.

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