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inborn error of metabolism
inborn error of metabolism An inborn error of metabolism is a disorder present from birth in which a genetic change disrupts a normal metabolic process, often because an enzyme is faulty or unstable.
An inborn error of metabolism is a disorder present from birth in which a genetic change disrupts a normal metabolic process, often because an enzyme is faulty or unstable. In the example described here, cystathionine beta-synthase deficiency causes homocysteine to build up and can be associated with learning and behavioral problems.