Patient Care and Treatment

Abstract

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.