Purpose
Amino acid disorder screening is done in newborns, and sometimes children and adults, to detect inborn errors in metabolism of amino acids. Twenty of the 100 known amino acids are the main building blocks for human proteins. Proteins regulate every aspect of cellular function. Of these 20 amino acids, ten are not made by the body and must be acquired through diet. Congenital (present at birth) enzyme deficiencies that affect amino acid metabolism or congenital abnormalities in the amino acid transport system of the kidneys creates a condition called aminoaciduria.
Screening is especially important in newborns. Some congenital amino acid metabolic defects cause mental retardation that can prevented with prompt treatment of the newborn. One of the best known examples of this is phenylketonuria (PKU). This is an genetic error in metabolism of phenylalanine, an amino acid found in milk. Individuals with PKU do not produce the enzyme necessary to break down phenylalanine.
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Structure of Amino Acids
Amino Acid Properties
Classes of Amino Acids
Amino Acid Disorders Screening
Functions and Non-functions in proteins