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Citrin deficiency (due to homozygous or compound heterozygous mutations in the gene <jats:italic>SLC25A13<\/jats:italic>) causes both adult\u2010onset 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\u2010rich 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\u2010deficient 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\u2010 and sex\u2010matched controls. These results strongly support an avoidance of carbohydrate\u2010rich foods by citrin\u2010deficient patients that may lead to worsening of symptoms.<\/jats:p>","DOI":"10.1007\/s10545-008-0752-x","type":"journal-article","created":{"date-parts":[[2008,4,15]],"date-time":"2008-04-15T10:16:25Z","timestamp":1208254585000},"page":"386-394","source":"Crossref","is-referenced-by-count":60,"title":["Reduced carbohydrate intake in citrin\u2010deficient subjects"],"prefix":"10.1002","volume":"31","author":[{"given":"T.","family":"Saheki","sequence":"first","affiliation":[{"name":"Department of Molecular Metabolism and Biochemical Genetics Kagoshima University Graduate School of Medical and Dental Sciences Kagoshima Japan"},{"name":"Institute for Health Sciences Tokushima Bunri University Yamashiro\u2010cho Tokushima 770\u20108514 Japan"}],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"K.","family":"Kobayashi","sequence":"additional","affiliation":[{"name":"Department of Molecular 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