PART A

INTRODUCTION TO INBORN ERRORS OF METABOLISM

1

A1

Disorders of Intermediary Metabolism   Johannes Zschocke

3

A2

Disorders of the Biosynthesis and Breakdown of Complex Molecules   Johannes Zschocke

7

A3

Neurotransmitter Defects and Related Disorders   Georg F. Hoffmann

11

PART B

APPROACH TO THE PATIENT WITH METABOLIC DISEASE

13

B1

When to Suspect Metabolic Disease   William L. Nyhan

15

B2

Metabolic Emergencies   William L. Nyhan

25

B3

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

61

B4

Anesthesia and Metabolic Disease   William L. Nyhan

63

PART C

ORGAN SYSTEMS IN METABOLIC DISEASE

67

C1

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

69

C2

Liver Disease   Georg F. Hoffmann and Guido Engelmann

89

C3

Gastrointestinal and General Abdominal Symptoms   Stephen G. Kahler

109

C4

Kidney Disease and Electrolyte Disturbances   William L. Nyhan

117

C5

Neurological Disease   Angels Garcia-Cazorla, Nicole I. Wolf, and Georg F. Hoffmann

127

C6

Metabolic Myopathies   Stephen G. Kahler

161

C7

Psychiatric Disease   Ertan Mayatepek

177

C8

Eye Disorders   Alberto Burlina and Alessandro P. Burlina

181

C9

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

197

C10

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

219

C11

Hematological Disorders   Ellen Crushell and Joe T.R Clarke

233

C12

Immunological Problems   Ertan Mayatepek

243

PART D

INVESTIGATIONS FOR METABOLIC DISEASES

249

D1

Newborn Screening for Inherited Metabolic Disease   Piero Rinaldo and Dietrich Matern

251

D2

Biochemical Studies   Kenneth M. Gibson and Cornelis Jakobs

263

D3

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, and Richard J.T. Rodenburg

283

D4

DNA Studies   Johannes Zschocke

305

D5

Pathology - Biopsy   Hans H. Goebel

311

D6

Suspected Mitochondrial Disorder   Nicole I. Wolf

325

D7

Postmortem Investigations   Piero Rinaldo

335

D8

Function Tests   Johannes Zschocke

339

D9

Family Issues, Carrier Tests, and Prenatal Diagnosis   Johannes Zschocke

357

PART E

APPENDIX

361

E1

Differential Diagnosis of Clinical and Biochemical Phenotypes

363

E2

Reference Books

375

E3

Internet Resources

377

Index

379