Inherited Metabolic Diseases-1판

Table of Contents
Preface ix
General Introduction 1
I. Inherited Metabolic Diseases: An Overview
1. Disorders of Intermediary Metabolism 5
2. Disorders of the Biosynthesis and Breakdown of Complex
Molecules 11
3. Neurotransmitter Defects and Related Disorders 15
II. Approach to the Patient with Metabolic Disease
4. When to Suspect Metabolic Disease 19
5. Patient Care and Treatment 31
6. Metabolic Emergencies 32
7. Anesthesia and Metabolic Disease 89
III. Investigations for Metabolic Disease
8. Biochemical Studies 95
9. Neonatal Screening for Inherited Metabolic Disease 110
10. DNA Studies 123
11. Function Tests 128
12. Biopsies 154
13. Neuroradiologic and Neurophysiologic Investigations 163
14. Postmortem Investigations 171
IV. Organ Systems in Metabolic Diseases
15. Cardiomyopathy and Cardiac Failure 175
16. Approach to the Patient with Hepatic Disease 191
17. Approach to the Patient with Gastrointestinal and General
Abdominal Symptoms 215
18. Renal and Electrolyte Disturbances 228
19. Metabolic Myopathies 238
20. Approach to the Patient with Psychiatric Problems 264
21. Approach to the Patient with Ophthalmologic Problems 268
22. Skin and Hair 279
23. Metabolic Errors with Major Malformations 292
24. Hematologic Abnormalities 303
25. Approach to the Patient with Immunologic Problems 309
V. Selected Groups of Metabolic Diseases
26. Organic Acid Analysis: Approach to the Diagnosis of Organic
Acidurias 319
27. Markers of Peroxisomal Function: Approach to Peroxisomal
Disorders 328
28. Purines and Pyrimidines: Approach to Diseases of Nucleotide
Metabolism 334
29. Storage Disorders 344
VI. Appendices
A. Differential Diagnosis of Suggestive Signs and Symptoms 359
B. Disease References 369
C. General References 400
D. Internet Resources 402
Subject Index 405