The screening of hereditary metabolic defects among newborn infants.
THE PRESENT COMMUNCIATION DESCRIBES THE USE OF FOUR APPROACHES TO THE DETECTION OF HEREDITARY METABOLIC DISORDERS: (1) the bacterial inhibition assay, (2) the reduction of nicotinamide adenine dinucleotide phosphate (NADP), (3) the use of paper chromatography, and (4) other specific methods. Using small quantities of capillary blood or urine, practical and simple methods have been devised for the diagnosis of 30 inborn errors of metabolism through screening programs.
D001431:Bacteriological Techniques; D001681:Biological Assay; D001774:Blood Chemical Analysis; D002854:Chromatography, Paper; D005260:Female; D006801:Humans; D007231:Infant, Newborn; D008297:Male; D008661:Metabolism, Inborn Errors / Q000175:diagnosis*; D009249:NADP; D014556:Urine / Q000032:analysis
D009249:NADP