Table Of ContentNeonatal Screening
for Inborn Errors of
Metabolism
Edited by H. Bickel, R. Guthrie, G. Hammersen
With contributions by AV. Augustin, C. Bachmann, R. Beckmann, L. Beubl,
H. Bickel, P. Bourdoux, G.R. Brandon, S.F. Cahalane, J.P. Colombo,
J.T. Coulombe, F. Delange, C. Dellarnonica, J.H. Dussault, AM. Errnans,
B. Foley, T.P. Foley, Jr., E. Gera, J. Ginsberg, R. Gitzelmann, R. Guthrie,
H. Guyda, S. Halvorsen, G. Harnrnersen, N.J. Hopwood, N.J. Howard,
R. Illig, M. Irie, C. Kattarnis, AH. Klein, R. Koch, G.M. Kornrower,
J. Letarte, H.L. Levy, P. Lutz, H.M. Mac Donald, R. Miyahira, J. Morissette,
H. Naruse, E.W. Naylor, D.C. Postellon, D.H.H. Pullon, J.M. Robert,
G. Scheuerbrandt, D. SchOnberg, W. Schroter, C.R. Scriver, D. Seidel,
V.E. Shih, U. Stephan, O. Thalharnmer, AM.O. Veale, H.L. Vis,
P.G. Walfish, R.W.E. Watts, H. Wieland, M.M. Wood, H. Zellweger
With 61 Figures
Springer-Verlag
Berlin Heidelberg New York 1980
Prof. Dr. Horst Bickel, Universitiits-Kinderklinik, 1m Neuenheimer Feld 150, 6900
Heidelberg, FRG
Robert Guthrie, Ph.D., M.D., Professor of Pediatrics and Microbiology, Department of
Pediatrics, State University of New York at Buffalo, Childrens Hospital, Acheson Hall,
Room 352, 3455 Main Street, Buffalo, N.Y. 14214, USA
Dr. Gerhard Hammersen, Universitiits-Kinderklinik, 1m Neuenheimer Feld 150,6900
Heidelberg, FRG
ISBN-13: 978-3-642-67490-7 e-ISBN-13: 978-3-642-67488-4
DOl: lO.lO07 /978-3-642-67 488-4
Library of Congress Cataloging in Publication Data. Main entry under title: Neonatal screening
for inborn errors of metabolism. Bibliography: p. Includes index. 1. Metabolism, Inborn errors of-
Diagnosis. 2. Infants (Newborn)--Diseases--Diagnosis. 3. Medical screening. I. Bickel, Horst,
1918-II. Guthrie, Robert, 1916-III. Hammersen, Gerhard, 1947-IV. Augustin, Amelia V. [DNLM:
1. Metabolism, Inborn errors--In infancy and childhood. 2. Metabolism, Inborn errors-
Prevention and control. 3. Hypothyroidism--Congenital. 4. Hypothyroidism--Prevention and
control. 5. Mass screening--In infancy and childhood. 6. Infant, Newborn. WD205 N438]
RJ286.N46 618.92'39 80-10858
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© Springer-Verlag Berlin Heidelberg 1980.
Softcover reprint of the hardcover 1st edition 1980
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Typesetting: Weihrauch, Wiirzburg
2121/3321 543210
Contents
List of Contributors and Active Participants . . . . . . . . . . . . . IX
H. Bickel:
Rationale of Neonatal Screening for Inborn Errors of Metabolism 1
Screening for Hereditary Metabolic Disorders
A.M.O. Veale:
Screening for Phenylketonuria 7
E.W. Naylor:
Newborn Screening for Maple Syrup Urine Disease (Branched-Chain Ketoaci-
duria). . . . . . . . . . . . . . . . . . . . . . . . . . 19
D.H.H. Pullon:
Homocystinuria and Other Methioninemias . 29
S. Halvorsen:
Screening for Disorders of Tyrosine Metabolism . . . . . . . . . . . 45
O. Thalhammer:
Neonatal Screening for Histidinemia 59
R. Gitzelmann:
Newborn Screening for Inherited Disorders of Galactose Metabolism 67
U. Stephan:
Neonatal Screening for Cystic Fibrosis 81
H.L. Levy, IT. Coulombe, and V.E. Shih:
Newborn Urine Screening. . . . . . . . . . . . . . . . . . . 89
V
Contents
R.W.E. Watts:
Neonatal Screening for Organic Acidurias . . . . . . . . . . . . . 105
D. Seidel and H. Wieland:
Significance and Need of Screening for Hyperlipidemia in Childhood . . . . 123
C. Kattamis:
Screening for Hemoglobinopathies (Thalassernias and Other Abnormal Hemoglo-
bins) . . . . . . . . . . . . . . . . . . . . . . . . . . 133
W. Schr6ter:
Screening for Glucose-6-Phosphate Dehydrogenase Deficiency and Other Erythro-
cyte Enzyme Defects . . . . . . . . . . . . . . . . . 149
R. Beckmann, J.M. Robert, H. Zellweger, L. Beubl, C. Dellamonica, and G.
Scheuerbrandt:
Neonatal Screening for Muscular Dystrophy. . . . . . . . . . . . . 155
Neonatal Screening for Congenital Hypothyroidism
J.H. Dussault, J. Letarte and H. Guyda:
Screening for Congenital Hypothyroidism: 4 Years of Experience . . . . . 167
R. Illig:
Neonatal Screening for Hypothyroidism by TSH Determination in Dried
Blood. . . . . . . . . . . . . . . . . . . . . . 179
T.P. Foley, Jr., A.H. Klein, B. Foley, A.V. Augustin, H.M. MacDonald, N.J.
Hopwood and D.C. Postellon:
Experience with Primary Thyrotropin (TSH) Screening for Congenital Hypothy
roidism in Pittsburgh (Pa.) . . . . . . . . . . . . . . . . . . . 191
F. Delange, P. Bourdoux, and A.-M. Ermans:
Neonatal Screening for Hypothyroidism in Brussels . . . . . . . . . . . 199
P.G. Walfish, J. Ginsberg and N.J. Howard:
Results of the Toronto Regionalized Screening Program for Detecting Neonatal
Hypothyroidism . . . . . . . . . . . . . . . . . . . . . . 207
P.G. Walfish and E. Gera:
Experience with the Application of a Dried Blood Thyrotropin (TSH) Method
for Neonatal Hypothyroidism Screening: Comparative Studies Between Double
Antibody and Solid Phase Radioimmunoassays . . . . . . . . . . . 219
VI
Contents
P.G. Walfish, E. Gera, and M.M. Wood:
Methodologic Limitations on the Measurement of Thyroxine from Small Dried
Blood Discs: Comparison of Double-Antibody and Solid Phase Radioimmunoas-
says . . . 229
R. Miyahira:
Summary of the Northwest Regional Hypothyroidism Screening Program. . . 241
M. Irie and H. Naruse:
Mass Screening for Neonatal Hypothyroidism in Japan . . . . . . . . . 247
D. Schonberg:
Addendum. . . . . . . . . . . . . . . . . . . . . . . . 253
Neonatal Screening Programs: Organization, Legislation, Methodologic Pitfalls,
and Quality Control
J.P. Colombo:
Introductory Remarks . . . . . . . . . . . . . . . . . . . . 257
R. Guthrie:
Organization of a Regional Newborn Screening Laboratory . . . . . . . 259
R. Koch:
Medical Backup Needed for Newborn Metabolic Screening Programs. . . . 271
G.R. Brandon:
Regionaiization of Metabolic Screening Laboratories. . . . . . . . . . 275
G.M. Komrower:
Structure ofthe System Required to Handle Problems in the European Community
Related to Inborn Errors of Metabolism . . . . . . . . . . . . . . 281
H.L. Vis:
Organization and Legislative of Screening in Belgium . . . . . . . . . 285
S.F. Cahalane:
Organization of Screening Laboratories . . . . . . . . . . . . . . 287
P. Lutz:
Pitfalls in the Microbiologic Assay of Amino Acids in Screening Laboratories . 289
C. Bachmann and J.P. Colombo:
Quality Control Trial in a Screening Laboratory 295
VII
Contents
H. Naruse:
System of Neonatal Screening for Inborn Errors of Metabolism in Japan. . . 299
1. Morissette:
Organization of Screening Data on Computer . . . . . . . . . . . . 307
A.M.O. Veale:
Use of a Computer in a Screening Program. . . . . . . . . . . . . 311
Recommendations for and Future Aspects of Screening
J.P. Colombo, G. Hammersen, and H. Bickel:
Recommendations for Newborn Screening . . . . . . . . . . . . 315
C.R. Scriver:
Predictive Medicine: a Goal for Genetic Screening . . . . . . . . . . 317
Subject Index. . . . . . . . . . . . . . . . . . . . . . . 335
VIII
List of Contributors and Active Participants
Amelia, V. Augustin, Children's Hospital of Pittsburgh, 125 Desoto Street, Pittsburgh,
Pennsylvania 15213, USA
C. Bachmann, Chemisches Zentrallabor, Inselspital, Freiburgstr. 23, CH-3010 Bern,
Switzerland
R. Beckmann, Universitiitskinderklinik, Abteilung Piidiatrische Muskelerkrankungen,
Mathildenstr. 1, 7800 Freiburg, FRG
L. Beubl, Universitiitskinderklinik, Abteilung Piidiatrische Muskelerkrankungen, Ma
thildenstr. 1, 7800 Freiburg, FRG
H. Bickel, Universitiitskinderklinik, 1m Neuenheimer Feld 150, 6900 Heidelberg, FRG
Bohunka, Blehovi, Pediatriskii klinika, Vinohradskii 159, 10034 Praha 10, CSSR
P. Bourdoux, Department of Pediatrics, Hopital Saint-Pierre, 322, Rue Haute, 1000 Brus
sels, Belgium
G.R. Brandon, Oregon Public Health Laboratory, 13815 N.E. Rose Parkway, Portland,
Oregon 97230, USA
N. Brandt, Rigshospitalet, Afsnit for Klinisk Genetik, Metabol. Lab. 4062, Blegdamsvej
9, 2100 K0benhavn, Denmark
G.N. Burrow, Toronto General Hospital, Division of Endocrinology and Metabolism,
101 College Street, Toronto, Ontario M5G lL7, Canada
Barbara Cabalska, National Research Institute for Mother and Child, 17 Kasprzaka,
01-211 Warsaw, Poland
S.F. Cahalane, Department of Pathology, The Children's Hospital, Temple Street,
Dublin I., Ireland
IX
List of Contributors and Active Participants
Nina A, Carson, Department of Child Health, The Queen's University of Belfast, In
stitute of Clinical Science, Grosvenor Road, Belfast BI12 6BJ, Northern Ireland
Christiane Charpentier, Assistance Publique, H6piteaux de Paris, 51 Rue d' Alleray,
75015 Paris, France
Barbara E. Clayton, The Hospital for Sick Children, Great Ormond Street, London,
WCIN 3JH, Great Britain, Present address: Univ. Southampton, Chemical Pathology
and Human Metabolism, South Lab. & Path. Block, Level D., Southampton
General Hospital, Tremona Road, Southamton S09 4XY
B.E. Cohen, Department of Pediatrics "B", Chaim Sheba Medical Center, Tel Hashomer,
Israel
J.P. Colombo, Chemische Zentrallabor, Inselspital, Freiburgstr. 23,3010 Bern, Switzer
land
IT. Coulombe, State Laboratory Institute, 305 South Street, Jamaica Plain, Massachu
setts 02130, USA
F. Delange, Department of Radioisotopes, H6pital Saint-Pierre, 322, Rue Haute, 1000
Brussels, Belgium
C. Dellamonica, Service de Genetique, H6tel-Dieu, 1, Place de I'H6pital, 69002 Lyon,
France
lH. Dussault, Le Centre Hospitalier de I'Universite Laval, Laboratoires de Recherches
en Endocrinologie et Metabolisme, 2705 Boulevard Laurier, Quebec, Que G IV 4G 2,
Canada
N. Duszynska, National Research Institute for Mother and Child, 17 Kasprzaka, 01-211
Warsaw, Poland
R.B. Elliot, Department of Pediatrics, University of Auckland, School of Medicine, 85
Park Road, Auckland, New Zealand
A.-M. Ermans, Department of Radioisotopes, H6pital Saint-Pierre, 322, Rue Haute, 1000
Brussels, Belgium
J.P. Farriaux, Centre Hospitalier Regionale de Lille, Service de Genetique et Maladies
Hereditaires du Metabolisme de L'Enfant, Cite Hospitaliere, 6me Etage, Aile Est,
Lille, France
Barbara Foley, Children's Hospital of Pittsburgh, 125 Desoto Street, Pittsburgh, Pennsyl
vania 15213, USA
x
List of Contributors and Active Participants
T.P. Foley, Jr., Children's Hospital of Pittsburgh, 125 Desoto Street, Pittsburgh, Pennsyl
vania 15213, USA
Edith Gera, Mount Sinai Hospital, Suite 639-640, 600 University A venue, Toronto, On
tario M5G lX5, Canada
J. Ginsberg, Mount Sinai Hospital, Suite 639-640, 600 University Avenue, Toronto, On
tario M5G lX5, Canada
R. Gitzelrnann, Division of Metabolism, Department of Pediatrics, University of Zurich,
Kinderspital, SteinwiesstraBe 75, 8032 Zurich, Switzerland
R. Griittner, Universitats-Kinderklinik, Martinistr. 52,2000 Hamburg 50, FRG
R. Guthrie, School ofM edicine, Department of Pediatrics, Childrens Hospital, Acheson
Hall, Room 352, 3435 Main Street, Buffalo, New York 14214, USA
H. Guyda, Le Centre Hospitalier de I'Universite Laval, Laboratoires de Recherches
en Endocrinologie et Metabolisme, 2705 Boulevard Laurier, Quebec, Que G I V
4G2, Canada
S. Halvorsen, University of Oslo, Department of Pediatrics, Oslo City Hospital, Ullevaal,
Oslo 1, Norway
G. Hammersen, Universitats-Kinderklinik, 1m Neuenheimer Feld 150, 6900 Heidelberg,
FRG
Nemat Hashem, Pediatrics Department, Faculty of Medicine, Ain-Shams University,
5, EI-Goumhouria Street, Cairo, Egypt
F.A. Hommes, Department of Pediatrics, Laboratory of Developmental Biochemistry,
University of Groningen, 10 Bloemsingel, Groningen, The Netherlands
Nancy J. Hopwood, Children's Hospital of Pittsburgh, 125 Desoto Street, Pittsburgh,
Pennsylvania 15213, USA
R.P. Hormuth, Specialist in Services for Mentally Retarded Children, Department of
Health, Education and Welfare, Children's Bureau, Rockeville, Maryland 20852,
USA
N.J. Howard, Mount Sinai Hospital, Suite 639-640, 600 University Avenue, Toronto,
Ontario M5G lX5, Canada
Ruth Illig, Universitatskinderspital, Steinwiesstr. 75, 8032 Zurich, Switzerland
XI
