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Methylmalonic acidemia
Definition:
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. Causes, incidence, and risk factors:
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People with this disease can't change, or "metabolize," an enzyme called methymalonyl-coenzyme A. The result is a 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 must be 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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