Reduced carbohydrate intake in citrin-deficient subjects
Reduced carbohydrate intake in citrin-deficient subjects
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DOI：
10.1007/s10545-008-0752-x
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发表时间：
2008-06-01
影响因子：
4.2
通讯作者：
Inui, A.
中科院分区：
文献类型：
--
作者：
Saheki, T.;Kobayashi, K.;Inui, A.
柠檬素是肝型天冬氨酸-谷氨酸载体，存在于线粒体内膜内。柑橘素缺乏（由于SLC25A13基因的纯合或复合杂合突变）可导致成人发病的II型瓜氨酸血症（CTLN2）和新生儿肝内胆汁淤滞症（NICCD）。临床上，CTLN2以高氨血症和瓜氨酸血症为特征，而NICCD的表现更为多样和短暂，可包括多种氨基酸血症、低蛋白血症、半乳糖血症、低血糖和黄疸。来自CTLN2患者的个人病史反复描述了对富含碳水化合物的食物的厌恶，饮食和治疗结果的临床观察表明，他们不寻常的食物偏好可能与他们的病理生理直接相关。在本研究中，我们监测了18名年龄在1至33岁之间的日本柠檬素缺乏受试者的食物摄入量，并将其与日本普通人群的公布值进行比较。我们的调查证实了碳水化合物摄入量的显著减少，这说明碳水化合物在总能量摄入（PFC比率）中所占的比例较小，并且碳水化合物摄入量的百分位数分布相对于年龄和性别匹配的对照组出现了较低的变化。这些结果强烈支持柑橘素缺乏患者避免富含碳水化合物的食物，这可能导致症状恶化。
Citrin is the liver-type aspartate-glutamate carrier that resides within the inner mitochondrial membrane. Citrin deficiency (due to homozygous or compound heterozygous mutations in the gene SLC25A13) causes both adult-onset type II citrullinaemia (CTLN2) and neonatal intrahepatic cholestasis (NICCD). Clinically, CTLN2 is characterized by hyperammonaemia and citrullinaemia, whereas NICCD has a much more varied and transient presentation that can include multiple aminoacidaemias, hypoproteinaemia, galactosaemia, hypoglycaemia, and jaundice. Personal histories from CTLN2 patients have repeatedly described an aversion to carbohydrate-rich foods, and clinical observations of dietary and therapeutic outcomes have suggested that their unusual food preferences may be directly related to their pathophysiology. In the present study, we monitored the food intake of 18 Japanese citrin-deficient subjects whose ages ranged from 1 to 33 years, comparing them against published values for the general Japanese population. Our survey confirmed a marked decrease in carbohydrate intake, which accounts for a smaller proportion of carbohydrates contributing to the total energy intake (PFC ratio) as well as a shift towards a lower centile distribution for carbohydrate intake relative to age- and sex-matched controls. These results strongly support an avoidance of carbohydrate-rich foods by citrin-deficient patients that may lead to worsening of symptoms.