Monogenic Hyperinsulinemic Hypoglycemia Disorders

Description

In this volume of 'Frontiers in Diabetes' dealing with the molecular basis of monogenic disease of beta-cell insulin regulation, world-renowned experts provide in-depth descriptions of the many recent advances in genetic defects that cause hyperinsulinemic hypoglycemia. These disorders comprise the most important form of hypoglycemia in infants and children and are associated with a high risk of morbidity, including seizures and severe brain injury. The discovery of eight different genetic loci involved in congenital hyperinsulinism has led to greatly improved methods of diagnosis and treatment. New approaches to diagnosis are highlighted, such as ¹⁸F-DOPA PET scans for preoperative localization of focal hyperinsulinism, as well as potential new treatments, such as green tea polyphenols for GDH-HI and GLP-receptor antagonists for SUR1 and Kir6.2 hyperinsulinism.Practitioners, including pediatricians and specialists in endocrinology, surgery, genetics, pathology, and radiology, will find important up-to-date information for clinical diagnosis, management, and new treatments for infants and children with congenital hyperinsulinism. Researchers will discover how genetic hyperinsulinism disorders provide novel insights into the basic mechanisms regulating insulin secretion not only in diabetics, but also in healthy humans.

Informations

• Publié par: S. Karger AG
• Date de parution: 16 février 2012
• Nombre de lectures: 0
• EAN13: 9783805599443
• Langue: English
• Poids de l'ouvrage: 1 Mo

Extrait

Monogenic Hyperinsulinemic Hypoglycemia Disorders
Frontiers in Diabetes
Vol. 21
Series Editors
M. Porta    Turin
F.M. Matschinsky    Philadelphia, Pa.
 
Monogenic Hyperinsulinemic Hypoglycemia Disorders
Volume Editors
Charles A. Stanley    Philadelphia, Pa.
Diva D. De León    Philadelphia, Pa.
54 figures, 10 in color, and 20 tables, 2012
Frontiers in Diabetes Founded 1981 by F. Belfiore, Catania
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Charles A. Stanley, MD Division of Endocrinology/Diabetes The Children's Hospital of Philadelphia and Department of Pediatrics Perelman School of Medicine University of Pennsylvania Philadelphia, Pa., USA
Diva D. De León, MD Division of Endocrinology/Diabetes The Children's Hospital of Philadelphia and Department of Pediatrics Perelman School of Medicine University of Pennsylvania Philadelphia, Pa., USA
Library of Congress Cataloging-in-Publication Data
Monogenic hyperinsulinemic hypoglycemia disorders/volume editors, Charles A. Stanley, Diva D. De León.
p.; cm. –– (Frontiers in diabetes, ISSN 0251-5342 ; v. 21)
Includes bibliographical references and indexes.
ISBN 978-3-8055-9943-6 (hard cover: alk. paper) –– ISBN 978-3-8055-9944-3 (electronic version)
I. Stanley, Charles A. II. De León, Diva D. III. Series: Frontiers in diabetes; v. 21.0251-5342
[DNLM: 1. Hyperinsulinism. 2. Hypoglycemia. 3. Insulin-metabolism. 4. Pancreatic Diseases.
W1FR945XV.21 2012/WK880]
616.4'66-dc23
2011048792
Bibliographic Indices. This publication is listed in bibliographic services.
Disclaimer. The statements, opinions and data contained in this publication are solely those of the individual authors and contributors and not of the publisher and the editor(s). The appearance of advertisements in the book is not a warranty, endorsement, or approval of the products or services advertised or of their effectiveness, quality or safety. The publisher and the editor(s) disclaim responsibility for any injury to persons or property resulting from any ideas, methods, instructions or products referred to in the content or advertisements.
Drug Dosage. The authors and the publisher have exerted every effort to ensure that drug selection and dosage set forth in this text are in accord with current recommendations and practice at the time of publication. However, in view of ongoing research, changes in government regulations, and the constant flow of information relating to drug therapy and drug reactions, the reader is urged to check the package insert for each drug for any change in indications and dosage and for added warnings and precautions. This is particularly important when the recommended agent is a new and/or infrequently employed drug.
All rights reserved. No part of this publication may be translated into other languages, reproduced or utilized in any form or by any means electronic or mechanical, including photocopying, recording, microcopying, or by any information storage and retrieval system, without permission in writing from the publisher.
© Copyright 2012 by S. Karger AG, P.O. Box, CH-4009 Basel (Switzerland)
www.karger.com
Printed in Germany on acid-free and non-aging paper (ISO 9706) by Kraft Druck GmbH, Ettlingen
ISSN 0251-5342
e-ISSN 1662-2995
ISBN 978-3-8055-9943-6
e-ISBN 978-3-8055-9944-3
 
Contents
Preface
Stanley, C.A.; De León, D.D. (Philadelphia, Pa.)
Historical Perspective on the Genetic Forms of Congenital Hyperinsulinism
Stanley, C.A.; Matschinsky, F.M. (Philadelphia, Pa.)
Biochemistry and Physiology of the ATP-Sensitive Potassium Channel
Remedi, M.S.; Nichols, C.G. (St. Louis, Mo.)
Pathophysiology of Diffuse ATP-Sensitive Potassium Channel Hyperinsulinism
De León, D.D.; Stanley, C.A. (Philadelphia, Pa.)
Molecular Defects of ATP-Sensitive Potassium Channels in Congenital Hyperinsulinism
Shyng, S.-L.; Bushman, J.D.; Pratt, E.B.; Zhou, Q. (Portland, Oreg.)
Molecular Mechanisms and Clinical Pathophysiologies of Focal ATP-Sensitive Potassium Channel Hyperinsulinism and Beckwith-Wiedemann Syndrome
Arnoux, J.-B.; Verkarre, V.; Rossignol, S.; Aigrain, Y.; de Lonlay, P. (Paris)
Pancreatic Histopathology of Hyperinsulinism
Suchi, M. (Milwaukee, Wisc.); Bhatti, T.R.; Ruchelli, E.D. (Philadelphia, Pa.)
Localization of a Focal Lesion of Congenital Hyperinsulinism: Imaging and Surgery
States, L.J.; Adzick, N.S. (Philadelphia, Pa.)
Role of Incretin Hormones in Hyperinsulinemic Hypoglycemia De
León, D.D. (Philadelphia, Pa.)
Glutamate Dehydrogenase: Structure, Regulation, and Its Role in Insulin Homeostasis
Smith, T.J. (Saint Louis, Mo.)
Congenital Hyperinsulinism Due to Activating Mutations of Glutamate Dehydrogenase: The Hyperinsulinism/Hyperammonemia Syndrome
Kelly, A.; Palladino, A.; Stanley, C.A. (Philadelphia, Pa.)
Amino Acid-Stimulated Insulin Secretion: The Role of the Glutamine-Glutamate-Alpha-Ketoglutarate Axis
Li, C.; Matschinsky, F.M.; Stanley, C.A. (Philadelphia, Pa.)
Tissue Specificity of Glutamate Dehydrogenase as Illustrated in Pancreatic Beta-Cells and the Central Nervous System
Carobbio, S.; Vetterli, L.; Frigerio, F.; Karaca, M.; Maechler, P. (Geneva)
The Molecular Genetics and Pathophysiology of Congenital Hyperinsulinism Caused by Short-Chain 3-Hydroxyacyl-CoA Dehydrogenase Deficiency
Molven, A.; Helgeland, G.; Sandal, T.; Njølstad, P.R. (Bergen)
Hyperinsulinism Due to Activating Mutations of Glucokinase
Sayed, S.; Matschinsky, F.M.; Stanley, C.A. (Philadelphia, Pa.)
Hyperinsulinism Due to Mutations of Uncoupling Protein 2
del Mar Gonzalez-Barroso, M. (Paris/Madrid); de Lonlay, P.; Ricquier, D. (Paris)
Exercise-Induced Hyperinsulinism: A Failure of Monocarboxylate Transporter 1 Expression Silencing
Otonkoski, T. (Helsinki); Meissner, T. (Düsseldorf)
HNF4A and Hyperinsulinemic Hypoglycemia
Kapoor, R.R.; James, C.T.; Hussain, K. (London)
Author Index
Subject Index
 
Preface
This volume of Frontiers in Diabetes is devoted to genetic defects associated with hyperinsulinemic hypoglycemia. Although hypoglycemia disorders might seem a peculiar topic for a series on diabetes mellitus, these diseases provide unique perspectives on basic mechanisms regulating insulin secretion in both normals and diabetics. The contributors to this monograph represent many centers around the world that have been responsible for the rapid advances in this field over the past two decades (although we confess to not being able to include other significant investigators for lack of space).
This volume is the third in a series devoted to discussing broadly the molecular basis of monogenic disease of glucose homeostasis (see vol. 15 and 16). We hope that it will be recognized as the third guidepost for an investigative strategy which continues to elucidate the biochemistry of rare molecular genetic ‘experiments of nature’ in fuel metabolism, many yet to be discovered, thereby increasing the understanding of the enormous complexities of blood glucose regulation in health and disease, and facilitating the development of new therapies that would benefit the patients suffering from diabetes mellitus, hyperinsulinemic hypoglycemia, and related disorders.
The Editors wish to thank Dr. Franz M. Matschinsky, series editor for Frontiers in Diabetes, for suggesting this volume and for his encouragement.
Charles A. Stanley, Philadelphia, Pa. Diva D. De León, Philadelphia, Pa.
 
Stanley CA, De León DD (eds): Monogenic Hyperinsulinemic Hypoglycemia Disorders. Front Diabetes. Basel, Karger, 2012, vol 21, pp 1-6
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Historical Perspective on the Genetic Forms of Congenital Hyperinsulinism
Charles A. Stanley a Franz M. Matschinsky b
a Division of Endocrinology/Diabetes, The Children's Hospital of Philadelphia and b Institute for Diabetes, Obesity and Metabolism, University of Pennsylvania School of Medicine, Philadelphia, Pa., USA
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Abstract
Since 1995, a total of 8 genetic defects in the pathways of beta-cell insulin secretion have been identified that cause congenital hyperinsulinism. These advances parallel the discovery of 10 different monogenic diabetes disorders. Together these disorders of islet regulation provide important insight into the mechanisms controlling beta-cell insulin secretion not only in patients, but also in normal humans.
Copyright © 2012 S. Karger AG, Basel
As shown in the table 1 , the major historical landmarks in congenital hyperinsulinism (HI) in children roughly parallel the discoveries of monogenic forms of diabetes mellitus [maturity-onset diabetes of the young (MODY)]. Recognition of HI actually predates MODY by two decades, beginning with Irvine McQuarrie [ 1 ] in 1954, who devoted his presidential address to the American Pediatric Society to a description of ‘idiopathic hypoglycemia of infancy’. He was among the first to recognize that endogenous hypoglycemia, as opposed to hypoglycemia from iatrogenic insulin overdose, could occur in children. He emphasized that delays in diagnosis and inadequate early therapy of this idiopathic disorder all too frequently result in ‘irremediable brain injury’. Shortly thereafter, in 1956, Cochrane et al. [ 2 ] described children with a form of hypoglycemia that was not improved, but aggravated by a high