Inherited Metabolic Diseases

Part I. Introduction to Inborn Errors of Metabolism

1. Disorders of Intermediary Metabolism
Johannes Zschocke

2. Disorders of the Biosynthesis and Breakdown of Complex Molecules
Johannes Zschocke

3. Neurotransmitter Defects and Related Disorders
Georg F. Hoffmann

Part II. Approach to the Patient

4. When to Suspect Metabolic Disease
William L. Nyhan

5. Patient Care and Treatment
William L. Nyhan, Georg F. Hoffmann

6. Inherited Metabolic Diseases in the Context of Rare/Orphan Diseases
Georg F. Hoffmann

7. Structured Communication and Behavioural Medicine
Peter Burgard

8. Guidelines and Follow-Up
Stefan Kölker

9. Patient and Family Associations
Steve Hannigan

10. Adolescence, Emerging Adulthood, and Problems of Transition
Ursula Plöckinger

11. Pregnancy and Maternal Care
Elaine Murphy

12. Metabolic Emergencies
William L. Nyhan, Stefan Kölker, Georg F. Hoffmann

13. Workup of the Patient with Metabolic Acidosis and Massive Ketosis
William L. Nyhan, Stefan Kölker, Georg F. Hoffmann

14. Workup of the Patient with Lactic Acidemia: Mitochondrial Disease
William L. Nyhan, Stefan Kölker, Georg F. Hoffmann

15. Work-Up of the Patient with Hypoglycemia
William L. Nyhan, Stefan Kölker, Georg F. Hoffmann

16. Approach to the Child Suspected of Having a Disorder of Fatty Acid Oxidation
William L. Nyhan, Stefan Kölker, Georg F. Hoffmann

17. Work-Up of the Patient with Hyperammonemia
William L. Nyhan, Stefan Kölker, Georg F. Hoffmann

18. Work-Up of the Patient with Acute Neurological or Psychiatric Manifestations
William L. Nyhan, Stefan Kölker, Georg F. Hoffmann

19. Emergency Treatment of Inherited Metabolic Diseases
William L. Nyhan, Stefan Kölker, Georg F. Hoffmann

20. Anesthesia and Metabolic Disease
William L. Nyhan

21. Principles of Dietary Management
Anita MacDonald

22. Gene and Cell Therapy for Inborn Errors of Metabolism
Cary O. Harding

Part III. Organ Systems in Metabolic Disease

23. Approach to the Patient with Cardiovascular Disease
Joachim Kreuder, Stephen G. Kahler

24. Liver Disease
Georg F. Hoffmann, Patrick McKiernan

25. Gastrointestinal and General Abdominal Symptoms
Stephen G. Kahler

26. Kidney Disease and Electrolyte Disturbances
William L. Nyhan

27. Neurological Disease
Angels García-Cazorla, Nicole I. Wolf, Fanny Mochel, Georg F. Hoffmann

28. Metabolic Myopathies
Stephen G. Kahler

29. Psychiatric Disease
Ertan Mayatepek

30. Eye Disorders
Alberto Burlina, Andrea Celato, Alessandro P. Burlina

31. Skin and Hair Disorders
Diego Martinelli, Maya Hachem, Enrico Bertini, Carlo Dionisi-Vici

32. The Bone in Genetic and Metabolic Diseases: A Practical Approach
Andrea Superti-Furga, Luisa Bonafé, Sheila Unger

33. Physical Abnormalities in Metabolic Diseases
Ute Moog, Johannes Zschocke, Stephanie Grünewald

34. Hematological Disorders
Ellen Crushell, Joe T. R. Clarke

35. Immunological Problems
Ertan Mayatepek

Part IV. Investigations for Metabolic Diseases

36. Newborn Screening for Inherited Metabolic Disease
Dietrich Matern, Piero Rinaldo

37. Biochemical Studies
Miao He, K. Michael Gibson

38. Enzyme Diagnostics in a Changing World of Exome Sequencing and Newborn Screening as Exemplified for Peroxisomal, Mitochondrial, and Lysosomal Disorders
Ronald J. A. Wanders, Ben J. H. M. Poorthuis, Richard J. T. Rodenburg

39. Molecular Genetic Analyses
Johannes Zschocke

40. Family Issues, Carrier Tests and Prenatal Diagnosis
Johannes Zschocke

41. Function Tests
Johannes Zschocke, Stefan Kölker

42. Diagnostic Workup of Patients with Mitochondrial Diseases
Shamima Rahman, Nicole I. Wolf

43. Pathology: Biopsy
Josefine Radke, Werner Stenzel, Hans H. Goebel

44. Postmortem Investigations
Piero Rinaldo

45. Neuroradiology
Inga Harting, Nicole I. Wolf

Avainsanat: Medicine & Public Health, Pediatrics, Internal Medicine, General Practice / Family Medicine, Neurology, Pathology, Human Genetics