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Congenital Neurotransmitter Disorders: A Clinical Approach
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Editors: Georg F. Hoffmann and Nenad Blau (University Children's Hospital, Department of General Pediatrics, Germany)
Book Description:
Congenital neurotransmitter disorders are nowadays recognized as important causes of severe, progressive encephalopathies mostly of early onset. They are ultraorphan diseases and numerous experiences confirm again and again that diagnosis and treatment of patients is often almost regularly delayed for many years, if ever at all. Specific therapeutic approaches which can lead to excellent outcomes, especially if instituted early, are thereby withheld from patients and their families.

The diagnosis of these disorders is almost exclusively based on clinical signs and symptoms leading to measurement of metabolites in CSF, specifically the quantitative determination of the neurotransmitters or their metabolites, that is the amino acids glutamate, glycine and GABA, the acidic metabolites of the biogenic monoamines, and tetrahydrobiopterin metabolites. Important relationships have emerged in disturbances of folate- and vitamin B6-metabolism. Whilst the majority of the identified disorders are due to inherited enzyme deficiencies, defects in transport of active compounds (transpotopathies) have been reported very recently. There is however still widespread uncertainty about when to perform specialized CSF investigations and what to investigate, and these services are unavailable in most countries. The main focus of this book is the clinical approach to these disorders. We wanted to provide as much detailed information and recommendations on therapy, monitoring and follow-up as possible and hope for quicker and improved therapy for affected individuals. A further growing awareness of these disorders is needed to allow increased and earlier diagnosis of patients. Neuropediatricians and neurologists must become more familiar with the broad clinical spectrum of monogenic neurometabolic diseases, the role and place of specialized CSF investigations, and the available therapeutic approaches. Hopefully this publication will play its part in and expedite this process. (Imprint: Nova Biomedical)


Book Review

This book has been reviewed in the following publication:

Journal of Inherited Biological Disease - Reviewed by Nikolas Boy and Verena Peters, Centre for Paediatric and Adolescence Medicine, University; Children’s Hospital Heidelberg, Heidelberg, Germany



Table of Contents:
In Memoriam of Robert Surtees pp.ix

Preface pp.xi-xii

List of Disorders pp.xiii

Chapter 1. Signs and Symptoms of Neurotransmitter Disorders: Approach to Diagnosis
(Georg F. Hoffmann and Nenad Blau, University Children's Hospital, Department of General Pediatrics, Germany)pp.1-16

Chapter 2. L-Dopa-Responsive Dystonia Syndromes
(Jenifer Friedman and Thomas Opladen, Neurosciences and Pediatrics
UCSD/Rady Children's Hospital San Diego, CA and others)pp.17-38

Chapter 3. Tetrahydrobiopterin Disorders Presenting with Hyperphenylalaninemia
(Alberto Burlina and Nenad Blau, Division of Inherited Metabolic Diseases, Regional Center of Expanded Newborn Screening, Department of Pediatrics, University Hospital, Padova, Italy)pp.39-50

Chapter 4. Tyrosine Hydroxylase Deficiency
(Roser Pons, Rafael Artuch and Angels García-Cazorla, Department of Neurology, Metabolic Unit, Hospital Sant Joan de Déu, Barcelona, Spain)pp.51-64

Chapter 5. Aromatic L-Amino Acid Decarboxylase Deficiency
(Georg F. Hoffmann and Birgit Assmann, Department of General Pediatrics, University of Heidelberg, Germany)pp.65-80

Chapter 6. The Monoamine Transportopathies
(Manju A. Kurian and Birgit Assmann, Great Ormond Street Hospital for Children NHS Foundation Trust, London, UK)pp.81-92

Chapter 7. Defects in Catabolism of Biogenic Amines
(Nenad Blau, Keith Hyland and Georg F. Hoffmann, University Children's Hospital, Department of General Pediatrics, Germany)pp.93-100

Chapter 8. Nonketotic Hyperglycinemia
(Johan Van Hove and Curtis R. Coughlin II, Clinical Genetics and Metabolism, Department of Pediatrics, CO, US)pp.101-122

Chapter 9. Serine Synthesis Disorders
(Jaak Jaeken and Tom de Koning, University Hospital Gasthuisberg, Belgium)pp.123-132

Chapter 10. Gamma-Amino Butyric Acid Pathway Disorders
(Philipp Pearl and K. Michael Gibson, Boston Children's Hospital, Boston, MA, US and others)pp.133-148

Chapter 11. Pyridoxine and Pyridoxal-Phosphate Dependent Epilepsies
(Sylvia Stöckler-Ipsiroglu and Clara D.M. van Karnebeek, Division of Biochemical Diseases Child; Family Research Institute, British Columbia Children’s Hospital; Department of Pediatrics, Centre for Molecular Medicine and Therapeutics, University of British Columbia)pp.149-166

Chapter 12. Folate Pathway and Transport Disorders
(Robert Steinfeld, Department of Pediatrics, University Medical Center Göttingen, Göttingen, Germany)pp.167-188

Appendix pp.189-192

Index pp.195-205



   Series:
      Neuroscience Research Progress
   Binding: Hardcover
   Pub. Date: 2014 - 4th Quarter
   Pages: 222. 7x10 - (NBC-C)
   ISBN: 978-1-63463-071-9
   Status: AV
  
Status Code Description
AN Announcing
FM Formatting
PP Page Proofs
FP Final Production
EP Editorial Production
PR At Prepress
AP At Press
AV Available
  
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Congenital Neurotransmitter Disorders: A Clinical Approach