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Файл:Ординатура / Хирургия / Библиотека им академика М.И. Перельмана / Книга_2984_Библиотеки_им_академика_М_И_Перельмана
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METABOLIC DISEASES – LABORATORY AND CLINICAL RESEARCH
NEUROCHEMISTRY OF
METABOLIC DISEASES
LYSOSOMAL STORAGE DISEASES,
PHENYLKETONURIA,
AND CANAVAN DISEASE
3RD EDITION
No part of this digital document may be reproduced, stored in a retrieval system or transmitted in any form or
by any means. The publisher has taken reasonable care in the preparation of this digital document, but makes no
expressed or implied warranty of any kind and assumes no responsibility for any errors or omissions. No
liability is assumed for incidental or consequential damages in connection with or arising out of information
contained herein. This digital document is sold with the clear understanding that the publisher is not engaged in
rendering legal, medical or any other professional services.
METABOLIC DISEASES – LABORATORY
AND CLINICAL RESEARCH
Additional books and e-books in this series can be found
on Nova’s website under the Series tab.
METABOLIC DISEASES – LABORATORY AND CLINICAL RESEARCH
NEUROCHEMISTRY OF
METABOLIC DISEASES
LYSOSOMAL STORAGE DISEASES,
PHENYLKETONURIA,
AND CANAVAN DISEASE
3RD EDITION
SANKAR SURENDRAN
EDITOR
Copyright © 2020 by Nova Science Publishers, Inc.
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NOTICE TO THE READER
The Publisher has taken reasonable care in the preparation of this book, but makes no expressed or implied warranty
of any kind and assumes no responsibility for any errors or omissions. No liability is assumed for incidental or
consequential damages in connection with or arising out of information contained in this book. The Publisher shall not
be liable for any special, consequential, or exemplary damages resulting, in whole or in part, from the readers’ use of,
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claimed for those parts to the extent applicable to compilations of such works.
Independent verification should be sought for any data, advice or recommendations contained in this book. In
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from any methods, products, instructions, ideas or otherwise contained in this publication.
This publication is designed to provide accurate and authoritative information with regard to the subject matter
covered herein. It is sold with the clear understanding that the Publisher is not engaged in rendering legal or any other
professional services. If legal or any other expert assistance is required, the services of a competent person should be
sought. FROM A DECLARATION OF PARTICIPANTS JOINTLY ADOPTED BY A COMMITTEE OF THE
AMERICAN BAR ASSOCIATION AND A COMMITTEE OF PUBLISHERS.
Additional color graphics may be available in the e-book version of this book.
Library of Congress Cataloging-in-Publication Data
Names: Surendran, Sankar, editor.
Title: Neurochemistry of metabolic diseases: : lysosomal storage diseases,
phenylketonuria, and canavan disease / Sankar Surendran, College
Station, TX, US, editor.
Description: 3rd edition. | New York : Nova Science Publishers, [2020] |
Series: Metabolic diseases - laboratory and clinical research | Includes
bibliographical references and index. |
Identifiers: LCCN 2020033929 (print) | LCCN 2020033930 (ebook) | ISBN
9781536183399 (hardcover) | ISBN 9781536184365 (adobe pdf)
Subjects: LCSH: Brain--Metabolism--Disorders--Pathophysiology. |
Brain--Metabolism--Disorders--Treatment.
Classification: LCC RC365 .N44 2020 (print) | LCC RC365 (ebook) | DDC
616.8/0471--dc23
LC record available at https://lccn.loc.gov/2020033929
LC ebook record available at https://lccn.loc.gov/2020033930
Published by Nova Science Publishers, Inc. † New York
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CONTENTS
Preface vii
Chapter 1 Mucolipidosis Disease in the
United Arab Emirates 1
Fedah E. Mohamed, Jozef Hertecant,
Fatma Al-Yahyai, Aisha Al-Shamsi,
Amal Al Tenaiji, Bassam R. Ali
and Fatma Al-Jasmi
Chapter 2 Sialidosis and Galactosialidosis:
Molecular Mechanism and Therapeutic Effect 31
Consolato M. Sergi
Chapter 3 Mucopolysaccharidosis Type III
(Sanfilippo Disease) Subtypes A, B, C, D:
Molecular Mechanism and Therapeutic Effect 51
Karolina Pierzynowska, Estera Rintz,
Lidia Gaffke, Zuzanna Cyske,
Magdalena Podlacha, Joanna Brokowska
and Grzegorz Wegrzyn
Chapter 4 Mucopolysaccharidosis Type VII/Sly Disease:
Molecular Mechanism and Therapeutic Effect 103
Adriana M. Montano
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Contents
vi
Chapter 5 GM2 Gangliosidosis /Tay Sachs Disease:
Molecular Mechanism and Therapeutic Effect 131
Jayesh Sheth and Aadhira Nair
Chapter 6 GM2 Gangliosidoses Type II/Sandhoff Disease
(SD): Diagnosis and Therapeutic Effect 175
Ali R. Tavasoli, Parastoo Rostami,
Ali Hosseini, Masoud Garshasbi,
Morteza Heidari and Mahmoud R. Ashrafi
Chapter 7 Metachromatic Leukodystrophy:
Molecular Mechanism and Therapeutic Effect 197
Soumya Sundaram, Soumya V. Chandrasekharan
and Sruthi S. Nair
Chapter 8 Parkinson’s Disease Association with
Gaucher Disease and Therapeutic Effect 253
Srinivasagam Rajasankar,
Veerappachetty Venkateshgobi
and Sankar Surendran
Chapter 9 Phenylketonuria:
Diagnosis and Therapeutical Options 277
Jaume Campistol and Sankar Surendran
Chapter 10 Current Trends in Canavan Disease Research
and Therapeutic Effect 303
Sankar Surendran and Vykuntaraju K. Gowda
About the Editor 325
List of Contributors 327
Index 333
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PREFACE
The book entitled “Neurochemistry of metabolic diseases: lysosomal
storage diseases, Phenylketonuria and Canavan disease” presents diseases
caused by lysosomal dysfunction, abnormal levels of phenylalanine
metabolism and N-acetyl aspartic acid metabolism. This book describes in-
depth knowledge on potential details including cause of the disease,
molecular changes, phenotype, diagnosis, pathological changes and
therapeutic approaches on human patients. This book is composed for the
use of experts including Physicians, Neuroscientists, Biomedical
researchers, Biochemists, Molecular biologists, Basic Science Researchers
and Medical Students. The first edition of this book was published in the
year 2007 by Transworld Research Network/Research Signpost, India. The
second edition of this book was published by NOVA Science Publishers,
USA; eBook was released in the year 2011, and hardcover was released in
the year 2013. The present book is third edition presents recent
developments on metabolic disorders.
Metabolic disorder caused by altered levels of metabolism resulting
pathophysiological abnormalities often leads to childhood death. Several
new developments on metabolic diseases research have been emerging.
Gaucher disease is a lysosomal storage disorder caused by
glucocerebrosidase gene mutations resulting glucocerebrosidase
deficiency. Current studies show that the same gene mutations also
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Sankar Surendran
viii
contribute to the Parkinson’s disease. Tetrahydrobiopterin (BH4) has been
widely used in treating patients with Phenylketonuria over a decade.
Recent studies reveal that patients treated with BH4 over one-year period
showed reduced levels of serum B12, folate and iron intake and therefore
patients under chronic BH4 treatment needed to be advised to have
additional micronutrients along with BH4. Macrocephaly was used as one
of the important features to diagnose Canavan disease. However, a recent
study showing a child with aspartoacylase gene mutation developed
microcephaly. Hence, Canavan disease phenotype can be either
macrocephaly or microcephaly. These are a few examples of recent
developments on metabolic diseases research. Therefore, this third edition
book is aimed to present current developments on metabolic diseases
research.
Sankar Surendran MS, PhD
Texas, USA
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In: Neurochemistry of Metabolic Diseases ISBN: 978-1-53618-339-9
Editor: Sankar Surendran © 2020 Nova Science Publishers, Inc.
Chapter 1
MUCOLIPIDOSIS DISEASE IN THE
UNITED ARAB EMIRATES
Fedah E. Mohamed
1,2
, Jozef Hertecant
3,4
,
Fatma Al-Yahyai
4
, Aisha Al-Shamsi
4
, Amal Al Tenaiji
5
,
Bassam R. Ali
1,2
and Fatma Al-Jasmi
1,3,4,*
1
Department of Genetics & Genomics, College of Medicine
and Health Sciences, United Arab Emirates University,
Al Ain, United Arab Emirates
2
Department of Pathology, College of Medicine and Health Sciences,
United Arab Emirates University, Al Ain, United Arab Emirates
3
Department of Paediatrics, College of Medicine and Health Sciences,
United Arab Emirates University, Al Ain, United Arab Emirates
4
Department of Paediatrics, Tawam Hospital,
Al Ain, United Arab Emirates
5
Department of Paediatrics, Sheikh Khalifa Medical Centre Hospital,
Abu Dhabi, United Arab Emirates
*
Corresponding Author’s Email: aljasmif@uaeu.ac.ae.
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