Inherited Metabolic Diseases: A Clinical Approach

Front Matter....Pages i-xiv
Disorders of Intermediary Metabolism....Pages 3-6
Disorders of the Biosynthesis and Breakdown of Complex Molecules....Pages 7-9
Neurotransmitter Defects and Related Disorders....Pages 11-12
When to Suspect Metabolic Disease....Pages 15-23
Metabolic Emergencies....Pages 25-31
Metabolic Emergencies....Pages 32-34
Metabolic Emergencies....Pages 35-38
Metabolic Emergencies....Pages 39-43
Metabolic Emergencies....Pages 44-47
Metabolic Emergencies....Pages 48-50
Metabolic Emergencies....Pages 51-54
Metabolic Emergencies....Pages 55-59
Patient Care and Treatment....Pages 61-61
Anesthesia and Metabolic Disease....Pages 63-66
Approach to the Patient with Cardiovascular Disease....Pages 69-88
Liver Disease....Pages 89-108
Gastrointestinal and General Abdominal Symptoms....Pages 109-116
Kidney Disease and Electrolyte Disturbances....Pages 117-126
Neurological Disease....Pages 127-159
Metabolic Myopathies....Pages 161-176
Psychiatric Disease....Pages 177-180
Eye Disorders....Pages 181-196
Skin and Hair Disorders....Pages 197-217
Physical Abnormalities in Metabolic Diseases....Pages 219-232
Hematological Disorders....Pages 233-241
Immunological Problems....Pages 243-248
Newborn Screening for Inherited Metabolic Disease....Pages 251-261
Biochemical Studies....Pages 263-281
Enzymes, Metabolic Pathways, Flux Control Analysis, and the Enzymology of Specific Groups of Inherited Metabolic Diseases....Pages 283-303
DNA Studies....Pages 305-309
Pathology — Biopsy....Pages 311-323
Suspected Mitochondrial Disorder....Pages 325-333
Postmortem Investigations....Pages 335-338
Function Tests....Pages 339-355
Family Issues, Carrier Tests, and Prenatal Diagnosis....Pages 357-360
Back Matter....Pages 362-620