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Clinical Chemistry 14: 1033-1065, 1968;
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Clinical Chemistry, Vol 14, 1033-1065, Copyright © 1968 by the American Association for Clinical Chemistry

Detection of Metabolic Disorders

Chromatographic Procedures and Interpretation of Results

Helen K. Berry 1, Carolyn Leonard 1, Helen Peters 1, Mary Granger 1, and Naree Chunekamrai 1

1 Children’s Hospital Research Foundation and the Department of Pediatrics, University of Cincinnati College of Medicine, Cincinnati, Ohio 45229.

A scheme for detection of metabolic disorders utilizing commercial dip tests, spot plate tests, and paper chromatographic tests is presented. Specific details are given for preparation and development of chromatograms for routine screening of urine specimens for disorders of amino acid and carbohydrate metabolism. Specialized tests for confirming positive findings in the screening procedures are described. The results are interpreted with regard to the variations encountered in testing normal infants and children, children hospitalized with a variety of diseases, and mentally retarded children. Examples of specific and generalized aminoacidurias are given.

Submitted on January 18, 1968
Accepted on March 12, 1968






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Copyright © 1968 by the American Association for Clinical Chemistry.