BACKGROUND Sucrose-isomaltase deficiency (SID) remains underdiagnosed. Absent or reduced enzyme activity promotes diarrhea, abdominal bloating, and flatulence from undigested and malabsorbed disaccharides. Frequency and severity of gastrointestinal symptoms may be associated with the type of carbohydrates consumed. OBJECTIVE To characterize the dietary intakes of patients treated with sacrosidase (Sucraid; QOL Medical) for SID and determine relationships between type of carbohydrates, sacrosidase dose, and gastrointestinal symptoms. DESIGN A prospective 30-day observational study. PARTICIPANTS/SETTING Forty-nine patients treated with sacrosidase for ≥3 months were recruited from the enzyme manufacturer's nationwide clinical database between November 2014 and August 2015. MAIN OUTCOME MEASURES Dietary energy and nutrient intakes reported during 24-hour diet recall interviews, frequency and severity of gastrointestinal (GI) symptoms, and sacrosidase dose. STATISTICAL ANALYSES PERFORMED Relationships between nutrient intakes, sacrosidase dose, and GI symptoms were evaluated using Spearman ρ correlation coefficients. RESULTS Sacrosidase dose averaged 5.2±3.1 mL/day. Participants reported 1.3±0.9 bowel movements daily. Having less frequent GI symptoms was associated with higher sacrosidase intake. Energy intakes averaged 1,562.5±411.5 kcal/day in children, 1,964.7±823.6 kcal/day in adolescents, and 1,952.6±546.5 kcal/day in adults. Macronutrient composition averaged 44% carbohydrate, 39% fat, and 17% protein. Average carbohydrate composition was 35% starch, 8% fiber, and 59% sugars. Sucrose and fructose intakes were not associated with GI symptoms. Lactose intake was associated with diarrhea. Maltose intake was associated with nausea, distension, and reflux. CONCLUSIONS Intakes were lower in carbohydrates and higher in fat compared with the Acceptable Macronutrient Distribution Ranges. Sucrose and fructose intakes were not associated with GI symptoms. Higher maltose and lactose intakes were associated with GI symptom frequency and severity. These findings provide evidence to guide nutrition counseling for patients treated for SID.

中文翻译：

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接受酶治疗的遗传性蔗糖酶-异麦芽糖酶缺乏症患者膳食摄入量与持续性胃肠道症状的关系

背景蔗糖-异麦芽糖酶缺乏症（SID）仍然未被诊断出来。缺乏或降低酶活性会促进未消化和吸收不良的二糖引起的腹泻、腹胀和胀气。胃肠道症状的频率和严重程度可能与摄入的碳水化合物类型有关。目的 表征用骶苷酶 (Sucraid; QOL Medical) 治疗 SID 的患者的膳食摄入量，并确定碳水化合物类型、骶苷酶剂量和胃肠道症状之间的关系。设计 一项前瞻性 30 天观察性研究。参与者/设置 2014 年 11 月至 2015 年 8 月期间，从酶制造商的全国临床数据库中招募了 49 名接受 scrosidase 治疗≥3 个月的患者。主要结果测量 24 小时饮食回忆访谈期间报告的饮食能量和营养摄入量、胃肠 (GI) 症状的频率和严重程度以及糖苷酶剂量。执行的统计分析 使用 Spearman ρ 相关系数评估营养摄入、糖苷酶剂量和 GI 症状之间的关系。结果 糖苷酶剂量平均为 5.2±3.1 mL/天。参与者报告每天排便 1.3±0.9 次。胃肠道症状较少与较高的糖苷酶摄入量有关。儿童能量摄入平均为 1,562.5±411.5 kcal/天，青少年为 1,964.7±823.6 kcal/天，成人为 1,952.6±546.5 kcal/天。常量营养素组成平均为 44% 的碳水化合物、39% 的脂肪和 17% 的蛋白质。碳水化合物的平均组成为 35% 的淀粉、8% 的纤维和 59% 的糖。蔗糖和果糖的摄入与胃肠道症状无关。乳糖摄入与腹泻有关。麦芽糖摄入与恶心、腹胀和反流有关。结论 与可接受的常量营养素分布范围相比，碳水化合物的摄入量较低，脂肪的摄入量较高。蔗糖和果糖的摄入与胃肠道症状无关。较高的麦芽糖和乳糖摄入量与胃肠道症状频率和严重程度有关。这些发现为指导接受 SID 治疗的患者进行营养咨询提供了证据。蔗糖和果糖的摄入与胃肠道症状无关。较高的麦芽糖和乳糖摄入量与胃肠道症状频率和严重程度有关。这些发现为指导接受 SID 治疗的患者进行营养咨询提供了证据。蔗糖和果糖的摄入与胃肠道症状无关。较高的麦芽糖和乳糖摄入量与胃肠道症状频率和严重程度有关。这些发现为指导接受 SID 治疗的患者进行营养咨询提供了证据。