The following are abstracts of presentations to the NIH Consensus Development Conference on Phenylketonuria (PKU): Screening and Management. They were designed for the use of panelists and participants in the conference and as a reference document for anyone interested in the conference deliberations.
Phenylketonuria: Paradigm for a Treatable Genetic Disease…? (next)
By Charles R. Scriver, M.D
The Use of Mutation Analysis To Anticipate Dietary Requirements in PKU
By Flemming Güttler, M.D., Ph.D.
By Friedrich K. Trefz, M.D.
Screening Technologies: Types and Effectiveness
By Harvey L. Levy, M.D.
Screening Procedures: Variations in Diagnostic Criteria and Followup
By Michele A. Lloyd-Puryear, M.D., Ph.D.
Informed Consent for Newborn Screening and Future Uses of Tissue Samples
By Mary Kay Z. Pelias, Ph.D., J.D.
Variations Among Programs in Time of Initiation of Diet Treatment, Level of Control, and Diet Relaxation/Discontinuation
By Margretta R. Seashore, M.D., FAAP, FACMG
Effects of Dietary Treatment on Children With Classical Phenylketonuria (PKU): The United States PKU Collaborative Study, 1967–1984
By Eva Gross Friedman
Dietary Treatment of PKU With Behavior Disorders
By Alfred A. Baumeister, Ph.D.
A 15-Year Followup Report on Participants in the Collaborative Study of Children Treated for PKU (PKUCS 1967–1984)
By Richard Koch, M.D.
Commentary on Recommendations in the United Kingdom for the Management of PKU
By Forrester Cockburn, M.D.
Recommendations of the German Working Group for Metabolic Diseases for Control of Phenylalanine in Phenylketonuria
By Peter Burgard, Ph.D.
PKU Treatment in France
By Véronique Abadie, M.D.
Treatment Regimens and Their Effectiveness: A Meta-Analytic Review of the Literature
By Marilyn C. Welsh, Ph.D.
Psychosocial Factors and Dietary Adherence
By Susan E. Waisbren, Ph.D.
Maternal PKU: Restarting and Monitoring Diet Before and During Pregnancy
By Kimberlee Michals, Ph.D., R.D., L.D.
Maternal PKU: Pregnancy and Child Outcomes in Relation to Dietary Control
By Reuben Matalon, M.D., Ph.D.
Alternative Dietary Treatments
By Joachim Pietz, M.D.
Perspectives on the Future of Gene Therapy
By Savio L.C. Woo, Ph.D.
By Keith F. Widaman, Ph.D