Abstract：
This study compared the anthropometric parameters of patients with fatty acid oxidation disorders (FAOD) and healthy controls, showing an increased prevalence of abnormal body weight (overweight and obesity) in the FAOD group. First, differences in BMI, BMI percentiles and z-scores, and weight and weight percentiles were compared in a cohort of 39 patients with FAOD and 156 healthy controls, as well as between patients born before and after the introduction of a populational newborn screening programme (NBS) in 2014 in Poland. We also performed a systematic literature review yielding 12 studies mentioning anthropometric parameters in 80 FAOD patients and 121 control subjects, followed by a meta-analysis of data from 8 studies and our cohort. There were significant differences in body weight percentiles (p = 0.001), BMI (p = 0.022), BMI percentiles (p = 0.003) and BMI z-scores (p = 0.001) between FAOD patients and controls in our cohort but not between pre- and post-newborn-screening patients. The meta-analysis did not show any differences in weight and BMI in all tested subgroups, i.e., all FAOD patients vs. controls, medium-chain acyl-CoA dehydrogenase (MCADD) patients vs. controls and patients with FAOD types other than MCAD vs. controls. These results, however, should be interpreted with caution due to the overall low quality of evidence as assessed by GRADE, the small sample sizes and the significant heterogeneity of the included data.
摘要：
这项研究比较了脂肪酸氧化障碍（FAOD）患者和健康对照的人体测量参数，显示FAOD组中异常体重（超重和肥胖）的患病率增加。首先,BMI的差异，BMI百分位数和z分数，在39名FAOD患者和156名健康对照人群中比较了体重和体重百分位数，以及2014年在波兰引入人口新生儿筛查计划（NBS）前后出生的患者之间。我们还进行了系统的文献综述，在80名FAOD患者和121名对照受试者中，有12项研究提到了人体测量参数。随后对来自8项研究和我们队列的数据进行荟萃分析。体重百分位数存在显着差异（p=0.001），BMI（p=0.022），在我们的队列中，FAOD患者和对照组之间的BMI百分位数（p=0.003）和BMIz评分（p=0.001），但在新生儿筛查前后患者之间没有。荟萃分析显示，在所有测试的亚组中，体重和BMI没有任何差异，即，所有FAOD患者与controls,中链酰基辅酶A脱氢酶（MCADD）患者与对照组和MCAD以外的FAOD类型患者与controls.这些结果,然而,由于按等级评估的总体证据质量较低，因此应谨慎解释，纳入数据的样本量小，异质性显著。
