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Lysosomal Storage Disease www.currentmedicalliterature.com VOLUME 1 | NUMBER 1 | 2009 Lysosomal Storage Disease Supported by an unrestricted educational grant from Jointly sponsored by the University of Kentucky Colleges of Pharmacy and Medicine and Remedica Medical Education and Publishing. The University of Kentucky is an equal opportunity university. RT771_CML_LSD_Gen_US_COV_5.indd 1 15/4/09 15:26:39 VOLUME 1 | NUMBER 1 | 2009 Lysosomal Storage Diseases ADVISORY BOARD CLINICAL EDITORS JOE TR CLARKE KAY MACDERMOT Hospital for Sick Children, Toronto, Imperial College Department of Medical ON, Canada and Community Genetics, London, UK CHESTER B WHITLEY ATUL MEHTA University of Minnesota, Minneapolis, Royal Free Hospital, London, UK MN, USA GREGORY M PASTORES New York University School of Medicine, New York, NY, USA GUILLEM PIntOS-MORELL University Hospital Germans Trias i Pujol, Badalona, Spain BRYAN WINCHESTER Institute of Child Health, University College London, London, UK Visit CML – Lysosomal Storage Diseases online at www.currentmedicalliterature.com The website provides access to new and archived content, a personalized CML Compass search engine, a “Paper of the Month” service, and more! RT771_1_CML_LSD_Genz_US_07.indd 1 15/4/09 15:39:01 CURRent MEDIcal LIteRatURE JOURnalS Current Medical Literature journals are designed to solve the problem of information overload for specialist physicians. Each journal is compiled by an editorial team of clinicians from an ongoing review of the international literature, and articles are selected for citation and review on the basis of their relevance to clinical practice. Other titles in the series include the following. For additional information on any of these titles, please contact us at the address below. CML – Breast Cancer CML – Growth CML – Ophthalmology CML – Cardiology CML – Gynecology & Obstetrics CML – Pediatrics CML – Colorectal Cancer CML – Kidney Cancer CML – Psychiatry CML – Dermatology CML – Leukemia & Lymphoma CML – Respiratory Medicine CML – Diabetes CML – Lung Cancer CML – Rheumatology CML – Gastroenterology CML – Neurology CML – Urology PRIORITY JOURNALS In the preparation of this journal, over 2500 journals are reviewed for content relevant to the target audience. The following journals are treated on a priority basis by the Editors. Am J Hum Genet Clin Chem J Biochem Lancet Am J Med Genet Clin Genet J Biol Chem Mol Hum Reprod Am J Perinatol Eur J Pediatr J Cell Sci Nat Genet Anal Biochem Exp Cell Res J Clin Invest Nat Med Arch Intern Med FASEB J J Inherit Metab Dis Nature Biochem Biophys Res Commun FEBS Lett J Invest Med Neurology Biochem J Genomics J Neurochem Pediatrics Biochem Biophys Acta Hum Genet J Paediatr Child Health Pediatr Res Blood Hum Hered JAMA Proc Natl Acad Sci USA Blood Cells Mol Dis Hum Mol Genet Kidney Int Science ACKNOWLEDGMENT The Current Medical Literature team would like to thank the following publishers for granting us access to their online journal content: JAMA and the Archives journals The New England Journal of Medicine FacUltY DISclOSURES The following are the financial relationships declared by the journal’s Editorial Board: Joe TR Clarke: Actelion, Genzyme, Shire. Chester Whitley: Actelion, Amicus, BioMarin, Genzyme, Shire. Kay MacDermot: No relevant financial relationships to disclose. Atul Mehta: Actelion, Genzyme, Shire. Gregory M Pastores: No relevant financial relationships to disclose. Guillem Pintos-Morell: Shire. Bryan Winchester: Genzyme, Shire. CORRESPONDENCE The Editors look forward to receiving suggestions from readers regarding current papers they think deserve to be featured and which may have been omitted, and on any matter which might improve the series. Please address all correspondence to: Current Medical Literature, Remedica Medical Education and Publishing, Commonwealth House, 1 New Oxford Street, London WC1A 1NU, UK, Tel: +44 (0)20 7759 2999, Fax: +44 (0)20 7759 2951, Email: [email protected] Editor: Natalie Nkwor Email: [email protected] Production Controller: Marie Ingram Email: [email protected] Design and artwork: AS&K Skylight Creative Services Printed in the UK DISCLAIMER © Remedica 2009. 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 the prior permission of the copyright owners. While every effort is made by the publishers and editorial board to see that no inaccurate or misleading data, opinions, or statements appear in this journal, they wish to make it clear that the material contained in the publication represents a summary of the independent evaluations and opinions of the authors and contributors. As a consequence, the board, publishers, and any supporting company accept no responsibility for the consequences of any such inaccurate or misleading data or statements. Neither do they endorse the content of the publication or the use of any drug or device in a way that lies outside its current licensed application in any territory. For detailed information on any drugs or devices discussed in this publication, readers are advised to consult the manufacturer’s prescribing information. ISSN 2040-4890 (Print) ISSN 2040-4999 (Online) Produced and published by Remedica Medical Education and Publishing Limited. RT771_1_CML_LSD_Genz_US_07.indd 2 15/4/09 15:39:01 III Contents Foreword IV Leading Articles Musculoskeletal Aspects of MPS I: Diagnostic Challenges and Management Considerations 1 Gregory M Pastores, MD New York University School of Medicine, New York, NY, USA Ocular Changes and Outcomes in MPS I 6 Jane Ashworth, MD, PhD Manchester Royal Eye Hospital, Manchester, UK Citations and Editors’ Notes • Enzyme Replacement Therapy 12 • Biomarkers 14 • Genetics 15 • Animal Models 16 • Stem Cell Transplantation 18 • Classic MPS Literature 19 • Recommended Reviews 22 Reader Survey 24 RT771_1_CML_LSD_Genz_US_07.indd 3 15/4/09 15:39:02 IV Foreword The information available to clinicians of all disciplines continues to increase at an extraordinary rate, while the need to keep abreast of new developments for the effective practice of medicine has never been greater. The problems are obvious: many thousands of articles are published every year, yet the clinician has very little time available for reading, digesting, and assimilating new developments. How can the busy clinician keep up? The Editorial Board of Current Medical Literature – Lysosomal Storage Diseases seeks, on a bi-annual basis, to distil the best of the world literature on all clinical aspects of this subspeciality – with a special emphasis on mucopolysaccharidosis type 1 for this volume – into a manageable, easy-to-read journal. The Editors do more, however, than simply summarize the vital papers of the day – they also place them into context, helping the busy clinician relate the findings of research studies to their day-to-day practice. The Editors are all practicing clinicians themselves, and they know only too well how hard it can be to juggle the many and varied demands of modern clinical practice. This means, of course, that they understand the needs of the reader. Each issue of the journal contains a review of the recent literature in the form of “Editors’ Notes”, as well as specially commissioned “Leading Articles” on topical subjects. These succinct reviews, written by experts in their fields, provide fascinating discussion and opinions on significant issues within lysosomal storage diseases. Please take a moment to visit our website www.currentmedicalliterature.com, where you can access new and archived content, activate your personalized literature search engine (the CML Compass), and review the “Paper of the Month”, selected by the Editorial Board as THE paper that you should read that month. In short, Current Medical Literature – Lysosomal Storage Diseases serves a real need for clinicians with an interest in the field and does so in an accessible style and handy format. We are sure that you will appreciate the topicality, insight, and broad scope of this journal. The Publisher RT771_1_CML_LSD_Genz_US_07.indd 4 15/4/09 15:39:02 1 Leading Article Musculoskeletal Aspects of MPS I: Diagnostic Challenges and Management Considerations Gregory M Pastores, MD New York University School of Medicine, New York, NY, USA Bone and joint involvement are cardinal guidance and timely intervention can have features of the mucopolysaccharidoses a significant influence on clinical outcome. (MPSs), a heterogeneous group of disorders These factors emphasize the need for associated with defects in the sequential early diagnosis. degradation of glycosaminoglycans (GAGs) [1]. GAGs are important components of MPS I connective tissues, and defects in their Several subtypes of MPS have been turnover can lead to development of skeletal delineated, based on the specific lysosomal dysplasia, joint contracture, and reduced enzyme that is deficient [3]. Each of the skin laxity. The downstream cellular MPS variants has been assigned a number events that underlie the pathophysiology based on chronological description, and an of bone complications in the MPSs are not eponymous designation in recognition of the well understood, but are a subject of great clinician involved with its seminal clinical interest, as there may be overlap with disease characterization. Collectively, the prevalence mechanisms responsible for degenerative of MPS disorders has been estimated to be arthritis. Studies conducted in animal
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