Inherited metabolic diseases: a clinical approach

Front Matter....Pages i-xvii
Front Matter....Pages 1-1
Disorders of Intermediary Metabolism....Pages 3-8
Disorders of the Biosynthesis and Breakdown of Complex Molecules....Pages 9-12
Neurotransmitter Defects and Related Disorders....Pages 13-15
Front Matter....Pages 17-17
When to Suspect Metabolic Disease....Pages 19-28
Patient Care and Treatment....Pages 29-30
Inherited Metabolic Diseases in the Context of Rare/Orphan Diseases....Pages 31-32
Structured Communication and Behavioural Medicine....Pages 33-40
Guidelines and Follow-Up....Pages 41-43
Patient and Family Associations....Pages 45-47
Adolescence, Emerging Adulthood, and Problems of Transition....Pages 49-60
Pregnancy and Maternal Care....Pages 61-80
Metabolic Emergencies....Pages 81-90
Workup of the Patient with Metabolic Acidosis and Massive Ketosis....Pages 91-94
Workup of the Patient with Lactic Acidemia: Mitochondrial Disease....Pages 95-99
Work-Up of the Patient with Hypoglycemia....Pages 101-106
Approach to the Child Suspected of Having a Disorder of Fatty Acid Oxidation....Pages 107-111
Work-Up of the Patient with Hyperammonemia....Pages 113-117
Work-Up of the Patient with Acute Neurological or Psychiatric Manifestations....Pages 119-124
Emergency Treatment of Inherited Metabolic Diseases....Pages 125-131
Anesthesia and Metabolic Disease....Pages 133-137
Front Matter....Pages 17-17
Principles of Dietary Management....Pages 139-153
Gene and Cell Therapy for Inborn Errors of Metabolism....Pages 155-171
Front Matter....Pages 173-173
Approach to the Patient with Cardiovascular Disease....Pages 175-201
Liver Disease....Pages 203-226
Gastrointestinal and General Abdominal Symptoms....Pages 227-237
Kidney Disease and Electrolyte Disturbances....Pages 239-250
Neurological Disease....Pages 251-292
Metabolic Myopathies....Pages 293-312
Psychiatric Disease....Pages 313-317
Eye Disorders....Pages 319-339
Skin and Hair Disorders....Pages 341-370
The Bone in Genetic and Metabolic Diseases: A Practical Approach....Pages 371-380
Physical Abnormalities in Metabolic Diseases....Pages 381-399
Hematological Disorders....Pages 401-410
Immunological Problems....Pages 411-418
Front Matter....Pages 419-419
Newborn Screening for Inherited Metabolic Disease....Pages 421-437
Biochemical Studies....Pages 439-460
Enzyme Diagnostics in a Changing World of Exome Sequencing and Newborn Screening as Exemplified for Peroxisomal, Mitochondrial, and Lysosomal Disorders....Pages 461-487
Molecular Genetic Analyses....Pages 489-498
Family Issues, Carrier Tests and Prenatal Diagnosis....Pages 499-503
Front Matter....Pages 419-419
Function Tests....Pages 505-520
Diagnostic Workup of Patients with Mitochondrial Diseases....Pages 521-535
Pathology: Biopsy....Pages 537-550
Postmortem Investigations....Pages 551-554
Neuroradiology....Pages 555-570
Back Matter....Pages 571-605