A Holistic Approach to the Patients/ Families with Inborn Errors of Metabolism

BACKGROUND: Diagnosis, treatment, and care of inborn errors of metabolism require well organized interdisciplinary teams. Holistic approaches comprise the system of all elements and relations between elements necessary for an optimal function of the system. METHODS: Following the rule “structure follows function” based on scientific, academic, and clinical experience the elements of the system providing diagnosis, treatment, and care for inborn errors of metabolism are defined and described. RESULTS: A holistic approach to inborn errors of metabolism comprising 10 elements is suggested, established, and controlled by an interdisciplinary metabolic team organized as a disease, and a case management program based on evidence-based guidelines is suggested. Quality assurance and quality control will not only improve the treatment of the individual but also the health system. CONCLUSION: The holistic approach is a joint project of the team of health care professionals and the person with a condition, allowing them to see the patient’s individual medical, behavioral, social, legal, and economic context. For practical, technical, and economic reasons this will only be possible in centers caring for a critical number of individuals.