Inherited Disorders of Carbohydrate Metabolism: Monograph based upon Proceedings of the Sixteenth Symposium of The Society for the Study of Inborn Errors of Metabolism

425 Pages·1979·10.855 MB·English

by  H. G. Hers (auth.), D. Burman, J. B. Holton, C. A. Pennock (eds.)

Inherited Disorders of
Carbohydrate Metabolism
Previous Symposia of the Society for the
Study of Inborn Errors of Metabolism·
1. Neurometabolic Disorders in Childhood. Ed. K. S. Holt and J. Milner 1963
2. Biochemical Approaches to Mental Handicap in Children. Ed. J. D. Allan
and K. S. Holt 1964
3. Basic Concepts of Inborn Errors and Defects of Steroid Biosynthesis. Ed.
K. S. Holt and D. N. Raine 1965
4. Some Recent Advances in Inborn Errors of Metabolism. Ed. K. S. Holt and
V. P. Coffey 1966
5. Some Inherited Disorders of Brain and Muscle. Ed. J. D. Allan and D. N.
Raine 1969
6. Enzymopenic Anaemias, Lysosomes and other papers. Ed. J. D. Allan,
K. S. Holt, J. T. Ireland and R. J. Pollitt 1969
7. Errors of Phenylalanine Thyroxine and Testosterone Metabolism. Ed. W.
Hamilton and F. P. Hudson 1970
8. Inherited Disorders of Sulphur Metabolism. Ed. N. AJ. Carson and D. N.
Raine 1971
9. Organic Acidurias. Ed. J. Stern and C. Toothill 1972
10. Treatment of Inborn Errors of Metabolism. Ed. J. W. T. Seakins, R. A.
Saunders and C. Toothill 1973
11. Inborn Errors of Skin, Hair and Connective Tissue. Ed. J. B. Holton and
J. T. Ireland 1975
12. Inborn Errors of Calcium and Bone Metabolism. Ed. H. Bickel and J. Stern
1976
13. Medico-Social Management of Inherited Metabolic Disease. Ed. D. N.
Raine 1977
14. The Cultured Cell and Inherited Metabolic Disease. Ed. R. A Harkness and
F. Cockburn 1977
15. Inborn Errors of Immunity and Phagocytosis. Ed. F. Guttier, J. W. T.
Seakins and R. A Harkness 1979
The Society exists to promote exchanges of ideas between workers in different
disciplines who are interested in any aspect of inborn metabolic disorders. Par
ticulars of the Society can be obtained from the Editors of this Symposium.
• Symposia 1-10 published by E. & S. Livingstone
Inherited Disorders
of Carbohydrate
Metabolism
Monograph based upon
Proceedings of the Sixteenth Symposium of
The Society for the Study of Inborn Errors of Metabolism
Edited by
D. Burman
J. B. Holton
and
C. A. Pennock
~''"\''::_I.i•i. f.' '
MTPPRES".S~
LIMITED
International Medical Publishers
Published by
MTP Press Limited
Falcon House
Lancaster
England
Copyright© 1980 The Society for the Study of Inborn Errors
of Metabolism
Softcover reprint of the hardcover 1 5t edition 1980
All rights reserved. No part of this publication
may be reproduced, stored in a retrieval
system, or transmitted in any form or by any
means, electronic, mechanical, photocopying,
recording or otherwise, without prior
permission from the publishers.
British Ubrary Cataloguing in Publication Data
Inherited disorders of carbohydrate metabolism.
-(Society for the Study of Inborn Errors of
Metabolism. Symposia; 16).
1. Carbohydrate metabolism disorders
-Congresses 2. Metabolism, Inborn errors
of-Congresses
I. Burman, D II. Holton, John Bernard
III. Pennock, C A
616.3'99 RC632.C3
ISBN-13: 978-94-009-9217-7 e-ISBN-13: 978-94-009-9215-3
DOl: 10.1007/978-94-009-9215-3
Contents
list of Contributors ix
Preface xiii
SECTION ONE
Introduction
1 Carbohydrate metabolism and its
regulation - The Milner Lecture 3
H. G. Hers
SECTION TWO
Disorders of Carbohydrate Absorption
2 Basic causes of carbohydrate
malabsorption 21
J. T. Harries and D. P. R. Muller
3 Clinical aspects of disordered
carbohydrate absorption 39
A. S. McNeish and M. J. Harran
v
vi INHERITED DISORDERS OF CARBOHYDRATE METABOLISM
SECTION THREE
Disorders of Galactose Metabolism
4 Galactose metabolism, hereditary defects
and their clinical significance 61
R. Gitzelmann and R. G. Hansen
5 Clinical aspects of galactosaemia 103
G. N. Donnell, R. Koch, K. FishIer and W. G. Ng
6 How long should galactosaemia be treated? 117
N. J. Brandt
7 Pregnancy in classical galactosaemia 125
I. B. Sardharwalla, G. M. Komrower and V.
Schwarz
8 Screening for galactosaemia 133
H. L. Levy
9 Prenatal diagnosis of classical 141
galactosaemia
J. B. Holton and C. M. Raymont
Discussion 149
SECTION FOUR
Disorders of Fructose Metabolism
10 Clinical and genetic studies of disorders in
fructose metabolism 163
K. Baerlocher, R. Gitzelmann and B. Steinmann
CONTENTS vii
11 Pathogenic mechanisms of disorders in
fructose metabolism 191
H. F. Woods
Discussion 206
SECTION FIVE
Disorders of Pyruvate Metabolism
12 Pathways and regulation of pyruvate
metabolism 209
R. M. Denton and A. P. Halestrap
13 Pyruvate dehydrogenase deficiencies 239
J. P. Blass
14 Pyruvate carboxylase deficiency. studies
on patients and on an animal model system 269
F. A. Hommes, J. Schrijver and Th. Dias
SECTION SIX
Glycogen Storage Diseases
16 Recent advances and problems in the
glycogen storage diseases 289
B. E.Ryman
16 Hepatic glycogenosis: diagnosis and
management - The F. P. Hudson Memorial
Lecture 297
J. Fernandes
viii INHERITED DISORDERS OF CARBOHYDRATE METABOLISM
17 Recent work on treatment of Type I glycogen
storage disease 315
T. E. Stacey, A. Macnab and L. B. Strang
18 Pre-and postnatal diagnosis of glycogen
storage disease 327
G. Hug
19 Type VI glycogenosis: identification of
subgroups 369
Th. de B arsy and B. Lederer
Discussion 381
SECTION SEVEN
Genetic Aspects of Diabetes
20 Clinical studies of the inheritance of diabetes
mellitus 391
R. Tattersall
21 H LA antigens and diabetes 401
M. Thomsen, J. Nerup, M. Christy, O. Ortved
Andersen, M. Kromann, P. Platz, L. P. Ryder and
A. Svejgaard
22 Juvenile diabetes and optic atrophy 411
S. M. M. Sheriff, J. G. Tetley and C. R. Maddock
Discussion 421
Index 425
List of Contributors
O. Ortved ANDERSEN
Medical Department £, Fredericksberg Hospital, Copenhagen, Denmark
K. BAERLOCHER
Children's Hospital, Claudiustrasse 6, CH-9006, St. Gallen, Switzerland
J.P. BLASS
Dementia Research Service, Burke Rehabilitation Center, 785
Mamoroneck Avenue, White Plains, New York 10605, USA
N. J. BRANDT
Section of Clinical Genetics, University Department of Paediatrics and
of Obstetrics and Gynaecology, Rigshospitalet, Copenhagen, Denmark
D. BURMAN
Bristol Royal Hospital for Sick Children, Bristol
M. CHRISTY
Steno Memorial Hospital, DK-2820, Gentofte, Denmark
Th.de BARSY
Laboratoire de Chimie Physiologique, International Institute of Cellular
and Molecular Pathology, U.C.L. 75.39, 75 avenue Hippocrate, B-
1200 Brussels, Belgium
R. M. DENTON
Department of Biochemistry, University of Bristol Medical School,
University Walk, Bristol
Th. DIAS
Laboratory of Developmental Biochemistry, Department of Paediatrics,
University of Groningen School of Medicine, Groningen, The
Netherlands
G. N. DONNELL
University of Southern California School of Medicine, Department of
Pediatrics, Children's Hospital of Los Angeles, 4650 Sunset Boulevard,
Los Angeles, California 90054, USA
J. FERNANDES
University Hospital, Groningen, The Netherlands
K. FISHLER
University of Southern California School of Medicine, Division of
Medical Genetics, Children's Hospital of Los Angeles, 4650 Sunset
Boulevard, Los Angeles, California 90054, USA
ix
x INHERITED DISORDERS OF CARBOHYDRATE METABOLISM
R. GITZELMANN
Department of Paediatrics, Division of Metabolism, University of Zurich,
Children's Hospital Steinwiesstrasse 75, CH-8032, Zurich, Switzerland
A. P. HALESTRAP
Department of Biochemistry, University of Bristol Medical School,
University Walk, Bristol
R.G.HANSEN
Department of Chemistry and Biochemistry, Utah State University,
Logan, Utah, USA
M. J. HARRAN
Department of Child Health, University of Leicester, Leicester
J. T. HARRIES
Institute of Child Health, The Hospital for Sick Children, Great Ormond
Street, London
H.G.HERS
Laboratoire de Chimie Physiologique, International Institute of Cellular
and Molecular Pathology, U.C.L. 75.39, 75 avenue Hippocrate, B-1200
Brussels, Belgium
J. B. HOLTON
Department of Clinical Chemistry, Southmead Hospital, Bristol
F. A. HOMMES
Laboratory of Developmental Biochemistry, Department of Paediatrics,
University of Groningen School of Medicine, Groningen, The
Netherlands
G.HUG
Department of Pediatrics, University of Cincinnati College of
Medicine - Division of Enzymology, The Children's Hospital Medical
Center, Cincinnati, Ohio, USA
R.KOCH
University of Southern California School of Medicine - Division of
Medical Genetics, Children's Hospital of Los Angeles, 4650 Sunset
Boulevard, Los Angeles, California, USA
G. M. KOMROWER
Department of Medical Biochemistry, University of Manchester,
Manchester
M. KROMANN
Steno Memorial Hospital, DK-2820, Gentofte, Denmark
B. LEDERER
Laboratoire de Chimie Physiologique, International Institute of Cellular