title: The characteristics of food intake in patients with type II citrullinemia.
abstract: Some patients with citrin deficiency caused by SLC25A13 gene mutations develop adult-onset type II citrullinemia (CTLN2) with hepatic encephalopathy. A recent nutritional survey of 18 citrin-deficient subjects (age 1-33 y) confirmed a marked decrease in carbohydrate intake compared to an age-matched general Japanese population. However, a quantitative understanding of food intake in CTLN2 patients remains unclear, although qualitative dietary information has been reported. In order to elucidate the characteristics of daily nutrition of CTLN2 patients, the food intake of 5 male patients (age 39-52 y) was investigated in detail by the Food Frequency Questionnaire. In the present survey, the mean energy ratio of protein : fat : carbohydrate (PFC ratio) of the 5 patients was 19±3% : 44±5% : 37±4%, which was almost identical to previously reported data in younger citrin-deficient subjects (19±2% : 44±5% : 37±7%). Cereal intake was especially low in all CTLN2 patients at 309±33 g/d (56% of control), compared to that in an age-matched general Japanese population (553±197 g/d). Additionally, CTLN2 patients preferred high fat and protein foods. Commonly, fat intake declines with age in the general Japanese population, but this tendency was not observed in the 5 CTLN2 patients. The present results suggest that intakes of low-carbohydrate, high-protein and high-fat food was characteristic the 5 CTLN2 patients surveyed, as has been previously reported in younger citrin-deficient subjects, and that the PFC ratio may not be influenced by age or CTLN2-onset.
authors: Division of Nutrition, Shinshu University Hospital, Matsumoto, Japan.
authors: Mio
authors: M
authors: Nakamura
authors: Masahide
authors: M
authors: Yazaki
authors: Yumiko
authors: Y
authors: Kobayashi
authors: Kazuhiro
authors: K
authors: Fukushima
authors: Shu-ichi
authors: S
authors: Ikeda
authors: Keiko
authors: K
authors: Kobayashi
authors: Takeyori
authors: T
authors: Saheki
authors: Yutaka
authors: Y
authors: Nakaya
mesh_terms: D000328:Adult; D000367:Age Factors; D002135:Calcium-Binding Proteins / Q000172:deficiency*; D016022:Case-Control Studies; D020159:Citrullinemia; D004032:Diet; D004040:Dietary Carbohydrates / Q000008:administration & dosage; D004041:Dietary Fats / Q000008:administration & dosage; D004044:Dietary Proteins / Q000008:administration & dosage; D002523:Edible Grain; D002149:Energy Intake; D005518:Food Preferences; D006501:Hepatic Encephalopathy; D006801:Humans; D007564:Japan; D008297:Male; D008875:Middle Aged; D027361:Organic Anion Transporters / Q000172:deficiency*; D011795:Surveys and Questionnaires
chemical_list: D002135:Calcium-Binding Proteins; D004040:Dietary Carbohydrates; D004041:Dietary Fats; D004044:Dietary Proteins; D027361:Organic Anion Transporters; C008822:citrin