Endocrinology
Inherited metabolic diseases: a clinical approach 2016
| This book focuses on clinical presentations that may be caused by inherited metabolic diseases. Its symptom- and system-based approach will help clinicians with and without detailed knowledge of human biochemistry in all specialties to reach a correct diagnosis and institute the optimal treatment program. The book summarizes the central elements of inherited metabolic diseases and describes clearly how to carry out an efficient yet complete diagnostic work-up, thereby guiding the clinician from the presenting symptoms and signs through to effective initial management. After an introduction to the different disorders, the book explains when to consider an inborn metabolic error and which initial tests to order. Core aspects such as structured communication, guidelines, transition, pregnancy, maternal care and how to respond to various medical emergencies are covered. Therapeutic concepts such as dietary treatment are delineated and practical advice provided on the quite different treatment approaches required for individual diseases. An extensive section structured according to organ systems outlines the correct approach in the context of specific symptoms and signs. The value of each of the potential investigations is explained, with precise advice on the interpretation of results. The inclusion of algorithms, tables, lists, and charts facilitates rapid decision making and information retrieval, and the appendices include a helpful guide to differential diagnosis based on clinical and biochemical phenotypes. This new updated edition of Inherited Metabolic Diseases will be an invaluable aid for the busy clinician and an excellent quick reference for metabolic and genetic specialists. | |||
Table of contents : 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 |
