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Inherited Metabolic Diseases: A Clinical Approach, 2nd Edition – Georg F. Hoffmann

Inborn errors of metabolism are often felt to be inaccessible as a huge group of numerous genetic defects that are understood only by the specialist. Many textbooks leave the uninitiated with complicated biochemical pathways, strange disease names, and the impossible task of reading through large lists of single enzyme and protein defects. This is unfortunate as metabolic disor­ders can be understood and remembered in clinically distinct disease groups that require similar investigations and therapeutic strategies. The aim of this book is to make inborn errors of metabolism accessible to the general clini­cian and to help with the differential diagnosis in individual patients.

Although the individual defects are rare, they represent an important dif­ferential diagnosis in many patients with a wide range of clinical symptoms and signs. We felt that there is a need for a textbook on metabolic disorders that is not disease-orientated but patient-orientated, that does not focus on individual disorders for which there are excellent textbooks but is designed to help the general clinician who is concerned with the care of a patient with a set of problems or specific symptoms and signs.

This book is composed of four distinct but interdependent parts:

  1. The introduction (Part I) provides an overview of the major groups of metabolic disorders. Rather than discussing individual defects, it high­lights the similarities of the diseases in each group to give simple advice on which investigations are indicated if a particular disease group is suspected.
  2. The first major part (Part II) concentrates on clinical aspects and the dif­ferential diagnosis with regard to specific metabolic symptoms and signs. The clinician is guided to understand which clinical problems can be caused by which metabolic disorders and to utilize the most efficient diag­nostic strategies. Core aspects of metabolic medicine such as structured communication, guidelines, transition, pregnancy, maternal care, and how to respond to various medical emergencies are covered. Therapeutic con­cepts are delineated and practical advice provided on the different treat­ment approaches required for individual diseases.
  3. The second major part (Part III) is structured according to major organ systems and clinical symptomatology in metabolic disease. It outlines the correct approach in the context of specific symptoms and signs.
  4. The diagnostic section (Part IV) provides an overview and detailed instruc­tions on diagnostic procedures, their indication, requirements, interpretation, and problems. This is intended as a reference for clinicians planning investigations or tests in a particular patient.

We hope that this book will help to spread our experience that the universe of metabolic disorders is not a huge number of separate single enzyme and protein defects, but that there is a structure which makes this important group of disorders comprehensible to clinicians, for the benefit of the patients.


Part I. Introduction to Inborn Errors of Metabolism

1. Disorders of Intermediary Metabolism
2. Disorders of the Biosynthesis and Breakdown of Complex Molecules
3. Neurotransmitter Defects and Related Disorders

Part II. Approach to the Patient

4. When to Suspect Metabolic Disease
5. Patient Care and Treatment
6. Inherited Metabolic Diseases in the Context of Rare/Orphan Diseases
7. Structured Communication and Behavioural Medicine
8. Guidelines and Follow-Up
9. Patient and Family Associations
10. Adolescence, Emerging Adulthood, and Problems of Transition
11. Pregnancy and Maternal Care
12. Metabolic Emergencies
13. Workup of the Patient with Metabolic Acidosis and Massive Ketosis
14. Workup of the Patient with Lactic Acidemia: Mitochondrial Disease
15. Work-Up of the Patient with Hypoglycemia
16. Approach to the Child Suspected of Having a Disorder of Fatty Acid Oxidation
17. Work-Up of the Patient with Hyperammonemia
18. Work-Up of the Patient with Acute Neurological or Psychiatric Manifestations
19. Emergency Treatment of Inherited Metabolic Diseases
20. Anesthesia and Metabolic Disease
21. Principles of Dietary Management
22. Gene and Cell Therapy for Inborn Errors of Metabolism

Part III. Organ Systems in Metabolic Disease

23. Approach to the Patient with Cardiovascular Disease
24. Liver Disease
25. Gastrointestinal and General Abdominal Symptoms
26. Kidney Disease and Electrolyte Disturbances
27. Neurological Disease
28. Metabolic Myopathies
29. Psychiatric Disease
30. Eye Disorders
31. Skin and Hair Disorders
32. The Bone in Genetic and Metabolic Diseases: A Practical Approach
33. Physical Abnormalities in Metabolic Diseases
34. Hematological Disorders
35. Immunological Problems

Part IV. Investigations for Metabolic Diseases

36. Newborn Screening for Inherited Metabolic Disease
37. Biochemical Studies
38. Enzyme Diagnostics in a Changing World of Exome Sequencing and Newborn Screening as Exemplified for Peroxisomal, Mitochondrial, and Lysosomal Disorders
39. Molecular Genetic Analyses
40. Family Issues, Carrier Tests and Prenatal Diagnosis
41. Function Tests
42. Diagnostic Workup of Patients with Mitochondrial Diseases
43. Pathology: Biopsy

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