Physician's Guide to the Treatment And Follow-up of Metabolic Diseases

by Blau, Nenad; Hoffmann, Georg F.; Leonard, James

• ISBN13: 9783540229544
• ISBN10: 354022954X
• Edition: 1st
• Format: Hardcover
• Copyright: 2005-12-16
• Publisher: Springer Verlag

Summary

This clinical reference provides concise information on the treatment and management of inherited metabolic diseases. World experts cover all commonalities of therapy giving practical advice and guidance. All established treatment protocols in this quickly developing area of medicine are clearly described, including follow-up protocols and monitoring. Alternative and experimental therapies are also described and evaluated. Numerous tables and figures allow rapid access to specific details. This book is invaluable to anyone dealing with patients with inherited metabolic diseases, pediatricians, internists, neurologists, and clinical geneticists.

Table of Contents

Part One: Initial Approaches	1	(22)
Emergency Management of Metabolic Diseases	3	(12)
Georg F. Hoffmann
Joe T.R. Clarke
James V. Leonard
The Role of Communication in the Treatment of Inborn Metabolic Diseases	15	(8)
Peter Burgard
Udo Wendel
Part Two: Approach to Treatment	23	(362)
Disorders of PhenyIalanine and Tetrahydrobiopterin Metabolism	25	(10)
Nenad Blau
Peter Burgard
Disorders of Neurotransmission	35	(8)
Georg F. Hoffmann
Robert Surtees
Disorders of GABA, Glycine, Serine, and Proline	43	(6)
Jaak Jaeken
Tom J. De Koning
Disorders of Tyrosine Degradation	49	(8)
Elisabeth Holme
Disorders of Histidine Metabolism	57	(2)
Nenad Blau
Disorders of Leucine Metabolism	59	(22)
Rebecca S. Wappner
K. Michael Gibson
Disorders of Valine-Isoleucine Metabolism	81	(12)
Bruce A. Barshop
Various Organic Acidurias	93	(6)
Alberto Burlina
John Walter
Disorders of the y-Glutamyl Cycle	99	(6)
Ellinor Ristoff
Agne Larsson
Disorders of Sulfur Amino Acid Metabolism	105	(12)
Bridget Wilcken
Inherited Hyperammonaemias	117	(12)
James V. Leonard
Disorders of Ornithine, Lysine, and Tryptophan	129	(10)
Georg F. Hoffmann
Andreas Schulze
Defective Transcellular Transport of Amino Acids	139	(8)
Susanne Schweitzer-Krantz
Disorders of Mitochondrial Fatty Acid Oxidation and Ketone Body Metabolism	147	(14)
Helene Ogier De Baulny
Andrea Superti-Furga
Disorders of Carbohydrate and Glycogen Metabolism	161	(20)
Jan Peter Rake
Gepke Visser
G. Peter A. Smit
Disorders of Glucose Transport	181	(8)
Rene Santer
Jorg Klepper
Disorders of Glycerol Metabolism	189	(6)
Katrina M. Dipple
Edward R.B. McCabe
The Mucopolysaccharidoses	195	(10)
J. Edward Wraith
Joe T.R. Clarke
Oligosaccharidoses and Related Disorders	205	(12)
Generoso Andria
Giancarlo Parenti
Congenital Disorders of Glycosylation	217	(4)
Jaak Jaeken
Cystinosis	221	(10)
Erik Harms
Other Storage Disorders	231	(14)
Joe T.R. Clarke
Inborn Errors of Purineand Pyrimidine Metabolism	245	(10)
Albert H. van Gennip
Jorgen Bierau
William L. Nyhan
Disorders of Creatine Metabolism	255	(12)
Sylvia Stockler-Ipsiroglu
Roberta Battini
Ton DeGrauw
Andreas Schulze
Peroxisomal Disorders	267	(12)
Hanna Mandel
Hyperoxaluria	279	(8)
Bernd Hoppe
Ernst Leumann
Mitochondrial Energy Metabolism	287	(14)
Carolien Boelen
Jan Smeitink
Genetic Dyslipoproteinemias	301	(8)
Serena Tonstad
Brian McCrindle
Disorders of Steroid Synthesis and Metabolism	309	(12)
Anna Biason-Lauber
Inborn Errors of Cholesterol Biosynthesis	321	(10)
Dorothea Haas
Richard I. Kelley
The Porphyrias	331	(10)
Elisabeth Minder
Xiaoye Schneider-Yin
Disorders of Bile Acid Synthesis	341	(12)
Peter T. Clayton
Disorders of Copper, Zinc, and Iron Metabolism	353	(12)
Eve A. Roberts
Leukotrienes	365	(4)
Ertan Mayatepek
Hyperinsulinism of Infancy	369	(12)
Khalid Hussain
Other Metabolic Disorders	381	(4)
Georg F. Hoffmann
Nenad Blau
Part Three: Indices	385	(2)
Disorders Index	387	(24)
General Index	411