Van Calcar S C, Sowa M, Rohr F, Beazer J, Setlock T, Weihe T U, Pendyal S, Wallace L S, Hansen J G, Stembridge A, Splett P, Singh R H
Oregon Health & Science University, Portland, OR, USA.
CHOC Children's, Orange, CA, USA.
Mol Genet Metab. 2020 Sep-Oct;131(1-2):23-37. doi: 10.1016/j.ymgme.2020.10.001. Epub 2020 Oct 6.
The nutrition management guideline for very-long chain acyl-CoA dehydrogenase deficiency (VLCAD) is the fourth in a series of web-based guidelines focusing on the diet treatment for inherited metabolic disorders and follows previous publication of guidelines for maple syrup urine disease (2014), phenylketonuria (2016) and propionic acidemia (2019). The purpose of this guideline is to establish harmonization in the treatment and monitoring of individuals with VLCAD of all ages in order to improve clinical outcomes. Six research questions were identified to support guideline development on: nutrition recommendations for the healthy individual, illness management, supplementation, monitoring, physical activity and management during pregnancy. This report describes the methodology used in its development including review, critical appraisal and abstraction of peer-reviewed studies and unpublished practice literature; expert input through two Delphi surveys and a nominal group process; and external review from metabolic physicians and dietitians. It includes the summary statements of the nutrition management recommendations for each research question, followed by a standardized rating based on the strength of the evidence. Online, open access of the full published guideline allows utilization by health care providers, researchers and collaborators who advise, advocate and care for individuals with VLCAD and their families and can be accessed from the Genetic Metabolic Dietitians International (https://GMDI.org) and Southeast Regional Genetics Network (https://southeastgenetics.org/ngp) websites.
极长链酰基辅酶A脱氢酶缺乏症（VLCAD）的营养管理指南是一系列基于网络的指南中的第四部，这些指南聚焦于遗传性代谢疾病的饮食治疗，此前已发布了枫糖尿症（2014年）、苯丙酮尿症（2016年）和丙酸血症（2019年）的指南。本指南的目的是在各年龄段VLCAD患者的治疗和监测方面建立统一标准，以改善临床结局。确定了六个研究问题，以支持关于以下方面的指南制定：健康个体的营养建议、疾病管理、补充剂、监测、体育活动以及孕期管理。本报告描述了其制定过程中使用的方法，包括对同行评审研究和未发表的实践文献的回顾、批判性评价和摘要；通过两轮德尔菲调查和名义群体法获得专家意见；以及代谢科医生和营养师的外部评审。它包括每个研究问题的营养管理建议的总结陈述，随后是基于证据强度的标准化评级。完整发布的指南在线开放获取，可供为VLCAD患者及其家庭提供建议、支持和护理的医疗保健提供者、研究人员和合作者使用，可从国际遗传代谢营养师协会（https://GMDI.org）和东南地区遗传学网络（https://southeastgenetics.org/ngp）网站获取。
