Screening for inborn errors of amino acid metabolism

Early diagnosis and treatment may prevent brain damage and mental retardation in young infants with inborn errors of amino acid metabolism. The abnormal blood and urinary amino acids and their metabolites are listed in two separate tables in association with each disorder to aid laboratories in making a diagnosis during screening. Because of recent developments and discoveries, more detailed descriptions and diagnostic approaches in phenylketonuria (PKU) variants and urea cycle deficiencies are also presented. The test procedures routinely used for screening inherited metabolic disorders are also described. These include five simple chemical tests to detect excessive metabolites and amino acids; a one dimensional thin layer chromatography (TLC) to screen urine for abnormal amino acid patterns; a two-dimensional TLC for semiquantitative identification of amino acids in both urine and blood; and a high performance liquid chromatographic (HPLC) method for quantitative identification of amino acids. In addition, both one- and two-dimensional chromatographies run on small thin layer cellulose plates, are introduced, modifications which save a great deal of time, labor, and reagents. A new automated HPLC system is introduced for the quantitation of both primary and secondary amino acids; the sensitivity and speed of this system is especially useful for screening large numbers of physiological fluids. It is recommended that both the urine and blood from the same patients be screened to ensure that a diagnosis is not overlooked.