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Reduced carbohydrate intake in citrin‐deficient subjects
Author(s) -
Saheki T.,
Kobayashi K.,
Terashi M.,
Ohura T.,
Yanagawa Y.,
Okano Y.,
Hattori T.,
Fujimoto H.,
Mutoh K.,
Kizaki Z.,
Inui A.
Publication year - 2008
Publication title -
journal of inherited metabolic disease
Language(s) - English
Resource type - Journals
SCImago Journal Rank - 1.462
H-Index - 102
eISSN - 1573-2665
pISSN - 0141-8955
DOI - 10.1007/s10545-008-0752-x
Subject(s) - cholestasis , medicine , carbohydrate , endocrinology , jaundice , pathophysiology , compound heterozygosity , population , physiology , biology , mutation , biochemistry , gene , environmental health
Summary 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.