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1 General Aspects

Care and treatment of patients with an inherited metabolic disease require both a detailed knowledge of the natural history of the diseases and a comprehensive understanding of the molecular basis and the pathophysiological consequences of gene defects. Continuous sympathetic company and guidance of patients and their families are essential for optimal outcome. Inherited metabolic diseases are chronic conditions that involve various different organ systems and often show progressive pathology. In addition, several genetic aspects such as passing on a disease to one’s children, implications of consanguinity, the possibility of carrier detection, and prenatal or preimplantation diagnosis can create a severe psychosocial burden for individuals and families as a whole. This implies the need for an equally diverse multidisciplinary approach to care and treatment.

Primary correction of the genetic defect, i.e., gene or molecular therapy, is on the edge of becoming established for some inherited metabolic disease. Treatment is usually aimed at circumventing or neutralizing the genetic block, e.g., through the reduction of dietary phenylalanine in phenylketonuria. In addition, symptomatic treatment of the disease, such as medication for seizures or a portable electric wheel chair, is essential for outcome and improved quality of life of the patient and the family. The aim is to help the affected individual to achieve optimal development during childhood and maximal independence, social integration, and self-esteem as an adolescent and adult. This goal can only be achieved by a multidisciplinary approach. Care and treatment of the patient and the family should involve different medical specialties as well as associated professions such as dieticians, nurses, psychologists, physiotherapists, social workers, speech therapists, and teachers. Families may gain valuable emotional support and much practical advice by meeting other affected families. Ideally, a specialist in inherited metabolic diseases coordinates all aspects of care and treatment of the patient in close collaboration with the local family doctor or pediatrician.

The objective of this book is not to provide a detailed coverage of the diverse issues of the long-term care and treatment of inherited metabolic diseases. Treatment is discussed in detail where it is practically relevant for physicians particularly the emergency situation in which there is an acute presentation of a metabolic disorder. There is also a section on anesthesia, a subject seldom considered, but of major importance for patients with a variety of inherited metabolic diseases.