Inborn Metabolic Diseases : Diagnosis and Treatment

by Fernandes, J.

• ISBN13: 9783540656265
• ISBN10: 354065626X
• Format: Hardcover
• Copyright: 2000-08-01
• Publisher: Springer Verlag

Summary

The diagnosis and treatment of metabolic diseases represent the main issues of this clinical book. Each disease-related chapter starts with a figure which presents an outline of the metabolic pathway, the locations of its inborn defects, and a short explanation of its major functions. The position of the figure on the left-hand page facilitates its consultation when reading further. The text begins with a short clinical abstract and discusses clinical presentation, metabolic derangement, diagnosis, treatment and prognosis, genetics and references for each disease. Five chapters on the general principles of diagnosis and treatment precede the chapters on specific disorders. The first and most important one is an introduction to the clinical approach to inborn metabolic disease. The others deal with diagnostic procedures, emergency treatments, psychosocial care, and the present status of treatments, with comprehensive lists and new trends of treatment.

Table of Contents

Part I Diagnosis and Treatment: General Principles
Clinical Approach to Inherited Metabolic Diseases	3	(40)
J.-M. Saudubray
H. Ogier de Baulny
C. Charpentier
Diagnostic Procedures: Function Tests and Postmortem Protocol	43	(10)
J. Fernandes
J.-M. Saudubray
J. Huber
Emergency Treatments	53	(10)
H. Ogier de Baulny
J.-M. Saudubray
Psychosocial Care of the Child and Family	63	(12)
J.C. Harris
Treatment: Present Status and New Trends	75	(12)
J.H. Walter
J.E. Wraith
Part II Disorders of Carbohydrate Metabolism
The Glycogen-Storage Diseases	87	(16)
J. Fernandes
G.P.A. Smit
Disorders of Galactose Metabolism	103	(8)
R. Gitzelmann
Disorders of Fructose Metabolism	111	(6)
G. van den Berghe
Persistent Hyperinsulinemic Hypoglycemia	117	(10)
P. de Lonlay
J.-M. Saudubray
Part III Disorders of Mitochondrial Energy Metabolism
Disorders of Pyruvate Metabolism and the Tricarboxylic Acid Cycle	127	(12)
D.S. Kerr
I.D. Wexler
A.B. Zinn
Disorders of Fatty Acid Oxidation	139	(12)
C.A. Stanley
Disorders of Ketogenesis and Ketolysis	151	(6)
A.A.M. Morris
Defects of the Respiratory Chain	157	(14)
A. Munnich
Part IV Disorders of Amino Acid Metabolism and Transport
The Hyperphenylalaninaemias	171	(14)
I. Smith
P. Lee
Disorders of Tyrosine Metabolism	185	(10)
E.A. Kvittingen
E. Holme
Branched-Chain Organic Acidurias	195	(18)
H. Ogier de Baulny
J.-M. Saudubray
Disorders of the Urea Cycle	213	(10)
J.V. Leonard
Disorders of Sulfur Amino Acid Metabolism	223	(10)
G. Andria
B. Fowler
G. Sebastio
Disorders of Ornithine and Creatine Metabolism	233	(8)
V.E. Shih
S. Stockler-Ipsiroglu
Disorders of Lysine Catabolism and Related Cerebral Organic-Acid Disorders	241	(14)
G.F. Hoffmann
Nonketotic Hyperglycinemia	255	(4)
K. Tada
Disorders of Proline and Serine Metabolism	259	(6)
J. Jaeken
Transport Defects of Amino Acids at the Cell Membrane: Cystinuria, Hartnup Disease, and Lysinuric Protein Intolerance	265	(12)
O. Simell
K. Parto
K. Nanto-Salonen
Part V Vitamin-Responsive Disorders
Biotin-Responsive Multiple Carboxylase Deficiency	277	(6)
E.R. Baumgartner
T. Suormala
Disorders of Cobalamin and Folate Transport and Metabolism	283	(18)
D.S. Rosenblatt
Part VI Neurotransmitter and Small Peptide Disorders
Disorders of Neurotransmission	301	(12)
J. Jaeken
C. Jakobs
R. Wevers
Disorders in the Metabolism of Glutathione and Imidazole Dipeptides	313	(8)
A. Larsson
J. Jaeken
Part VII Disorders of Lipid and Bile Acid Metabolism
Dyslipidemias	321	(16)
A. Rodriguez-Oquendo
P.O. Kwiterovich Jr.
Disorders of Cholesterol Synthesis	337	(6)
G.F. Hoffmann
D. Haas
Disorders of Bile-Acid Synthesis	343	(12)
P.T. Clayton
Part VIII Disorders of Nucleic Acid and Heme Metabolism
Disorders of Purine and Pyrimidine Metabolism	355	(14)
G. Van den Berghe
M.-F. Vincent
S. Marie
The Porphyrias	369	(16)
N.G. Egger
D.E. Goeger
K.E. Anderson
Part IX Disorders of Metal Transport
Copper Transport Disorders: Wilson Disease and Menkes Disease	385	(8)
D.W. Cox
Z. Tumer
Genetic Defects Related to Metals Other Than Copper	393	(8)
F. Jochum
I. Lombeck
Part X Organelle-Related Disorders: Lysosomes, Peroxisomes, and Golgi and Pre-Golgi Systems
Disorders of Sphingolipid Metabolism	401	(12)
P.G. Barth
Mucopolysaccharidoses and Oligosaccharidoses	413	(10)
M. Beck
Peroxisomal Disorders	423	(10)
B.T. Poll-The
J.-M. Saudubray
Congenital Defects of Glycosylation: Disorders of N-Glycan Synthesis	433	(6)
J. Jaeken
Cystinosis	439	(6)
M. Broyer
Primary Hyperoxalurias	445	(8)
P. Cochat
M.-O. Rolland
Leukotriene-C4-Synthesis Deficiency	453
E. Mayatepek