ABSTRACT
Most inborn errors of metabolism lead to the sad result of mental retardation. It is important to screen for metabolic errors since many can be treated. Early detection and treatment of infants may result in prevention of serious sequelae. Detection of many of these inborn errors of metabolism cannot be made by blood tests but require urinalysis after the babies have fed regularly for a few days. It may seem almost uncanny that Sir Archibald Garrod was able to predict the inborn metabolic errors responsible for alkaptonuria, cystinuria, pentosuria, and albinism. There are several screening tests for specific types of inborn errors. In addition, general amino acid chromatography has been used. The clinical utility of urine tests for inborn errors of metabolism in many ways relates to whether or not there is a method of treatment of the disorder once it is identified.
