Department of General Pediatrics, Division of Child Neurology and Metabolic Medicine, Center for Child and Adolescent Medicine, University Hospital Heidelberg, Heidelberg, Germany.
J Mother Child. 2020 Oct 2;24(2):65-72. doi: 10.34763/jmotherandchild.20202402si.2004.000010.
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.
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.
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.
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.
先天性代谢缺陷的诊断、治疗和护理需要组织良好的跨学科团队。整体方法包括系统的所有要素以及要素之间的关系，这些是系统实现最佳功能所必需的。
根据科学、学术和临床经验，遵循“结构决定功能”的原则，确定并描述了为先天性代谢缺陷提供诊断、治疗和护理的系统要素。
建议采用一种包括 10 个要素的整体方法来治疗先天性代谢缺陷，该方法由一个跨学科代谢团队组织，作为一种疾病管理方案，并建立了基于循证指南的病例管理方案。质量保证和质量控制不仅将改善个体的治疗效果，还将改善卫生系统。
整体方法是医疗保健专业人员团队和患者的共同项目，使他们能够看到患者的个人医疗、行为、社会、法律和经济背景。出于实际、技术和经济原因，这仅在照顾一定数量患者的中心才有可能实现。
