The PKU Paradox: A Short History of a Genetic Disease

List of Abbreviations

ABBREVIATIONS AAP American Academy of Pediatrics ACMG American College of Medical Genetics AMA American Medical Association BIA bacterial inhibition assay CH congenital hypothyroidism FDA US Food and Drug Administration GMP glycomacropeptide HEW Department of Health, Education, and Welfare MCADD medium-chain acyl-CoA dehydrogenase deficiency MPKU maternal PKU MPKUCS Maternal PKU Collaborative Study MPKUS maternal PKU syndrome MR mental retardation MS-MS tandem mass spectrometry MSUD maple syrup urine disease NARC National Association for Retarded Children (1953–73); National Association for Retarded Citizens (1973–81) NAS National Academy of Sciences NBS newborn screening NICHD National Institute of Child Health and Human Development NIH National Institutes of Health PAH phenylalanine hydroxylase phe phenylalanine PKU phenylketonuria PKUCS United States Collaborative Study of Children Treated for Phenylketonuria xxiii xxiv Abbreviations PPMR President’s Panel on Mental Retardation rDNA recombinant DNA SACHDNC Secretary’s Advisory Committee on Heritable Disorders in Newborns and Children SCD sickle-cell disease USCB United States Children’s Bureau WHO World Health Organization THE PKU PARADOX This page intentionally left blank ...