Includes Appendix, References and Index

The field of inherited metabolic diseases has changed from a limited group of
rare, untreatable, often fatal disorders to an important cause of acutely lifethreatening and/or chronic debilitating but increasingly treatable illness.
Unchanged is the orphan nature of these disorders with mostly relatively nonspecific initial clinical manifestations.
The patient does not come to the physician with the diagnosis; the patient
comes with a history, symptoms, and signs. This book starts with those and
proceeds logically through algorithms from questions to answers. Special
emphasis is placed on acutely presenting disorders and emergency situations.
The rationale of the approaches presented in this book is based on extensive,
collective clinical experience. It is imbedded in the environment of Springer
Pediatric Metabolic Medicine and complements the disease-based approaches
to Inborn Metabolic Diseases in the books edited by Jean-Marie Saudubray
and colleagues as well as Nenad Blau and colleagues.
Important concepts with special emphasis to metabolic medicine which
are rarely described in detail in medical textbooks such as structured communication, guidelines, patient associations, transition, concepts of dietary
therapy, and adult and maternal care are delineated by experts. A system- and
symptom-based approach to inherited metabolic diseases should help colleagues from different specialties to diagnose their patients and to come to an
optimal program of therapy. For metabolic and genetic specialists, this book
is designed as a quick reference for what may be (even for the specialist)
infrequently encountered presentations.