Inherited Metabolic Diseases

A. 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

B. Approach to the Patient with Metabolic Disease

4. When to Suspect Metabolic Disease
William L. Nyhan

5. Metabolic Emergencies
William L. Nyhan

6. Metabolic Emergencies
William L. Nyhan

7. Metabolic Emergencies
William L. Nyhan

8. Metabolic Emergencies
William L. Nyhan

9. Metabolic Emergencies
William L. Nyhan

10. Metabolic Emergencies
William L. Nyhan

11. Metabolic Emergencies
Georg F. Hoffmann

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

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

14. Anesthesia and Metabolic Disease
William L. Nyhan

C. Organ Systems in Metabolic Disease

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

16. Liver Disease
Georg F. Hoffmann, Guido Engelmann

17. Gastrointestinal and General Abdominal Symptoms
Stephen G. Kahler

18. Kidney Disease and Electrolyte Disturbances
William L. Nyhan

19. Neurological Disease
Angels García-Cazorla, Nicole I. Wolf, Georg F. Hoffmann

20. Metabolic Myopathies
Stephen G. Kahler

21. Psychiatric Disease
Ertan Mayatepek

22. Eye Disorders
Alberto Burlina, Alessandro P. Burlina

23. Skin and Hair Disorders
Carlo Dionisi-Vici, May El Hachem, Enrico Bertini

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

25. Hematological Disorders
Ellen Crushell, Joe T R Clarke

26. Immunological Problems
Ertan Mayatepek

D. Investigations for Metabolic Diseases

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

28. Biochemical Studies
K. M. Gibson, C. Jakobs

29. Enzymes, Metabolic Pathways, Flux Control Analysis, and the Enzymology of Specific Groups of Inherited Metabolic Diseases
Ronald J. A. Wanders, Ben J. H. M. Poorthuis, Richard J. T. Rodenburg

30. DNA Studies
Johannes Zschocke

31. Pathology — Biopsy
Hans H. Goebel

32. Suspected Mitochondrial Disorder
Nicole I. Wolf

33. Postmortem Investigations
Piero Rinaldo

34. Function Tests
Johannes Zschocke

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

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