Neurochemistry of Metabolic Diseases: Lysosomal Storage Diseases, Phenylketonuria, and Canavan Disease. 3rd Edition

$230.00

Sankar Surendran (Editor)
College Station, TX, US

Series: Metabolic Diseases – Laboratory and Clinical Research
BISAC: MED027000

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 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 book was aimed to compose current developments on metabolic diseases research for the use by broad spectrum of experts including Physicians, Neuroscientists, Neurologists, Biomedical researchers, Biochemists, Molecular biologists, Basic Science Researchers and Medical Students.

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Table of Contents

Preface

Chapter 1. Mucolipidosis Disease in the United Arab Emirates
(Fedah E. Mohamed, Jozef Hertecant, Fatma Al-Yahyai, Aisha Al-Shamsi, Amal Al Tenaiji, Bassam R. Ali, and Fatma Al-Jasmi, Department of Genetics and Genomics, College of Medicine and Health Sciences, United Arab Emirates University, Al Ain, United Arab Emirates, and others)

Chapter 2. Sialidosis and Galactosialidosis: Molecular Mechanism and Therapeutic Effect
(Consolato M. Sergi, Department of Laboratory Medicine and Pathology, University of Alberta, Edmonton, AB, Canada, and others)

Chapter 3. Mucopolysaccharidosis Type III (Sanfilippo Disease) Subtypes A, B, C, D: Molecular Mechanism and Therapeutic Effect
(Karolina Pierzynowska, Estera Rintz, Lidia Gaffke, Zuzanna Cyske, Magdalena Podlacha, Joanna Brokowska and Grzegorz Wegrzyn, Department of Molecular Biology, University of Gdansk, Gdansk, Poland)

Chapter 4. Mucopolysaccharidosis Type VII/Sly Disease: Molecular Mechanism and Therapeutic Effect
(Adriana M. Montano, Department of Pediatrics, Department of Biochemistry and Molecular Biology, School of Medicine, Saint Louis University, St. Louis, MO, US)

Chapter 5. GM2 Gangliosidosis /Tay Sachs Disease: Molecular Mechanism and Therapeutic Effect
(Jayesh Sheth and Aadhira Nair, Foundation for Research in Genetics and Endocrinology [FRIGE], Institute of Human Genetics, Ahmedabad, Gujarat, India)

Chapter 6. GM2 Gangliosidoses Type II/Sandhoff Disease (SD): Diagnosis and Therapeutic Effect
(Ali R. Tavasoli, Parastoo Rostami, Ali Hosseini, Masoud Garshasbi, Morteza Heidari and Mahmoud R. Ashrafi, Myelin Disorders Clinic, Pediatric Neurology Division, Children’s Medical Center, Pediatrics Center of Excellence, Tehran University of Medical Sciences, Tehran, Iran, and others)

Chapter 7. Metachromatic Leukodystrophy: Molecular Mechanism and Therapeutic Effect
(Soumya Sundaram, Soumya V. Chandrasekharan and Sruthi S. Nair, Department of Neurology, Comprehensive Care Centre for Neurodevelopmental Disorders, Sree Chitra Tirunal Institute for Medical Sciences and Technology, Trivandrum, India, and others)

Chapter 8. Parkinson’s Disease Association with Gaucher Disease and Therapeutic Effect
(Srinivasagam Rajasankar, Veerappachetty Venkateshgobi and Sankar Surendran, Velammal Medical College Hospital and Research Institute,Tamil Nadu, India, and others)

Chapter 9. Phenylketonuria: Diagnosis and Therapeutical Options
(Jaume Campistol and Sankar Surendran, PKU Unit, Department of Neurology, Hospital Sant Joan de Deu, Barcelona, Spain, and others)

Chapter 10. Current Trends in Canavan Disease Research and Therapeutic Effect
(Sankar Surendran and Vykuntaraju K. Gowda, School of medicine, Louisiana State University Health Sciences center, New Orleans, LA, US, and others)

Index

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