Amino acids are the building blocks for proteins in the body. Accumulation of amino acids can occur due to abnormalities in the normal mechanisms for their metabolism or elimination. The increased levels show up in plasma (the liquid portion of blood) and urine. If the test to identify and measure their quantities is performed early enough on an infant with an inherited defect in amino acid metabolism, treatment can often be administered to prevent the severe mental retardation that may otherwise result.
|