Evans Maureen, Truby Helen, Boneh Avihu
Department of Metabolic Medicine, Royal Children's Hospital and Murdoch Children's Research Institute, Melbourne, Australia; Department of Nutrition and Food Services, Royal Children's Hospital, Melbourne, Australia; Department of Nutrition, Dietetics and Food, Monash University, Melbourne, Australia.
Department of Nutrition, Dietetics and Food, Monash University, Melbourne, Australia.
J Pediatr. 2017 Sep;188:163-172. doi: 10.1016/j.jpeds.2017.05.048. Epub 2017 Jun 17.
To examine relationships between dietary intake, growth and body composition patterns in patients with inborn errors of intermediary protein metabolism and to determine a safe protein:energy ratio (P:E ratio) associated with optimal growth outcomes.
Retrospective longitudinal data of growth and dietary intake in patients (n = 75) with isovaleric acidemia (IVA; n = 7), methylmalonic acidemia/propionic acidemia (MMA/PA; n = 14), urea cycle defects (UCD; n = 44), classical maple syrup urine disease (MSUD; n = 10) were collected. Prospective longitudinal data of growth, dietary intake, and body composition from 21 patients: IVA (n = 5), MMA/PA (n = 6), UCD (n = 7), and MSUD (n = 3) were collected at clinic visits.
Fifty-two of 75 (66%), 49 of 74 (68%), and 44 of 65 (68%) patients had a z-score of 0 (±1) for lifetime weight, height, and body mass index, respectively. Patients with MMA/PA had the lowest median height and weight z-scores, and MSUD patients had highest median body mass index z-score at all ages. In IVA, MMA/PA, and UCD, total natural protein intake met or exceeded the Food and Agriculture Organization of the United Nations (FAO)/World Health Organization (WHO)/United Nations University (UNU) recommended safe levels. Median percentage fat mass was 17.6% in IVA, 20.7% in MMA/PA, 19.4% in UCD, and 17.8% in MSUD. There was a significant negative correlation between percentage fat mass and total protein intake in IVA, MMA/PA, and UCD (r = -0.737; P = .010). The correlation between the P:E ratio and growth variables in IVA, MMA/PA, and UCD suggest a safe P:E ratio (>1.5 to < 2.9) g protein:100 kcal/day.
Growth outcomes in inborn errors of intermediary protein metabolism are not always ideal. Most patients with IVA, MMA/PA, and UCD consume sufficient natural protein to meet FAO/WHO/UNU recommendations. A P:E ratio range of (>1.5 to < 2.9)g protein/100 kcal/day correlates with optimal growth outcomes.
研究中间蛋白代谢先天性缺陷患者的饮食摄入、生长和身体成分模式之间的关系，并确定与最佳生长结果相关的安全蛋白质：能量比（P:E比）。
收集了75例患者（异戊酸血症（IVA；n = 7）、甲基丙二酸血症/丙酸血症（MMA/PA；n = 14）、尿素循环缺陷（UCD；n = 44）、经典枫糖尿症（MSUD；n = 10））的生长和饮食摄入的回顾性纵向数据。在门诊就诊时收集了21例患者（IVA（n = 5）、MMA/PA（n = 6）、UCD（n = 7）、MSUD（n = 3））的生长、饮食摄入和身体成分的前瞻性纵向数据。
75例患者中有52例（66%）、74例患者中有49例（68%）、65例患者中有44例（68%）的终身体重、身高和体重指数的z值分别为0（±1）。MMA/PA患者的身高和体重z值中位数最低，MSUD患者在各年龄段的体重指数z值中位数最高。在IVA、MMA/PA和UCD中，天然蛋白质总摄入量达到或超过了联合国粮食及农业组织（FAO）/世界卫生组织（WHO）/联合国大学（UNU）推荐的安全水平。IVA患者的脂肪量中位数为17.6%，MMA/PA患者为20.7%，UCD患者为19.4%，MSUD患者为17.8%。IVA、MMA/PA和UCD患者的脂肪量百分比与总蛋白质摄入量之间存在显著负相关（r = -0.737；P = 0.010）。IVA、MMA/PA和UCD患者的P:E比与生长变量之间的相关性表明安全的P:E比（>1.5至<2.9）克蛋白质：100千卡/天。
中间蛋白代谢先天性缺陷患者的生长结果并不总是理想的。大多数IVA、MMA/PA和UCD患者摄入的天然蛋白质足以满足FAO/WHO/UNU的建议。P:E比范围为（>1.5至<2.9）克蛋白质/100千卡/天与最佳生长结果相关。
