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What inherited metabolic disorders affect proteins?

Proteins contain substances known as amino acids, which the body needs for many important functions. Enzymes in the body help to break down these compounds in the food we eat so that the body can use them in the ways that it needs. In some cases, a genetic defect causes these enzymes to be missing or to function improperly. When this happens, substances that should be broken down build up, or the body fails to make a substance that it needs to, and a metabolic disorder develops. Inherited metabolic disorders that affect proteins include phenylketonuria (PKU), maple syrup urine disease, homocystinuria, and tyrosinemia. Doctors routinely screen for many amino acid metabolic disorders at birth.

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