Department of Pediatrics, Hyogo College of Medicine, Nishinomiya 663-8501, Japan; Okano Children's Clinic, Izumi 594-0071, Japan.
Okano Children's Clinic, Izumi 594-0071, Japan.
Mol Genet Metab. 2021 May;133(1):63-70. doi: 10.1016/j.ymgme.2021.03.004. Epub 2021 Mar 10.
Patients with citrin deficiency during the adaptation/compensation period exhibit diverse clinical features and have characteristic diet of high protein, high fat, and low carbohydrate. Japanese cuisine typically contains high carbohydrate but evaluation of diet of citrin-deficient patients in 2008 showed a low energy intake and a protein:fat:carbohydrate (PFC) ratio of 19:44:37, which indicates low carbohydrate consumption rate. These findings prompted the need for diet intervention to prevent the adult onset of type II citrullinemia (CTLN2). Since the publication of the report about 10 years ago, patients are generally advised to eat what they wish under active dietary consultation and intervention. In this study, citrin-deficient patients and control subjects living in the same household provided answers to a questionnaire, filled-up a maximum 6-day food diary, and supplied physical data and information on medications if any. To study the effects of the current diet, the survey collected data from 62 patients and 45 controls comparing daily intakes of energy, protein, fat, and carbohydrate. Food analysis showed that patient's energy intake was 115% compared to the Japanese standard. The confidence interval of the PFC ratio of patients was 20-22:47-51:28-32, indicating higher protein, higher fat and lower carbohydrate relative to previous reports. The mean PFC ratio of female patients (22:53:25) was significantly different from that of male patients (20:46:34), which may explain the lower frequency of CTLN2 in females. Comparison of the present data to those published 10 years ago, energy, protein, and fat intakes were significantly higher but the amount of carbohydrate consumption remained the same. Regardless of age, most patients (except for adolescents) consumed 100-200 g/day of carbohydrates, which met the estimated average requirement of 100 g/day for healthy individuals. Finally, patients were generally not overweight and some CTLN2 patients were underweight although their energy intake was higher compared with the control subjects. We speculate that high-energy of a low carbohydrate diet under dietary intervention may help citrin-deficient patients attain normal growth and prevent the onset of CTLN2.
患有 citrin 缺乏症的患者在适应/代偿期表现出不同的临床特征，其特征性饮食为高蛋白、高脂肪、低碳水化合物。日本料理通常含有高碳水化合物，但对 2008 年 citrin 缺乏症患者饮食的评估显示，能量摄入低，蛋白质：脂肪：碳水化合物（PFC）的比例为 19:44:37，这表明碳水化合物的消耗率低。这些发现促使人们需要进行饮食干预，以预防成年型 II 型 citrullinemia（CTLN2）的发生。自该报告发表约 10 年以来，一般建议患者在积极的饮食咨询和干预下，想吃什么就吃什么。在这项研究中，生活在同一家庭中的 citrin 缺乏症患者和对照者回答了一份问卷，填写了最多 6 天的饮食日记，并提供了身体数据和任何药物信息。为了研究当前饮食的影响，该调查从 62 名患者和 45 名对照者中收集了数据，比较了他们的能量、蛋白质、脂肪和碳水化合物的日常摄入量。食物分析显示，患者的能量摄入比日本标准高 115%。患者的 PFC 比值的置信区间为 20-22:47-51:28-32，表明与之前的报告相比，蛋白质更高，脂肪更高，碳水化合物更低。女性患者（22:53:25）的平均 PFC 比值与男性患者（20:46:34）有显著差异，这可能解释了女性 CTLN2 发病率较低的原因。与 10 年前发表的数据相比，能量、蛋白质和脂肪的摄入量显著增加，但碳水化合物的摄入量保持不变。无论年龄大小，大多数患者（除青少年外）每天摄入 100-200g 的碳水化合物，这符合健康个体每天 100g 的估计平均需求量。最后，患者的体重通常不超重，虽然他们的能量摄入高于对照者，但有些 CTLN2 患者体重偏轻。我们推测，饮食干预下低碳水化合物的高能量饮食可能有助于 citrin 缺乏症患者正常生长，预防 CTLN2 的发生。
