title: An Adolescent Case of Citrin Deficiency With Severe Anorexia Mimicking Anorexia Nervosa.
abstract: We report a 12-year-old female citrin-deficient patient presenting with severe anorexia and body weight loss, mimicking the restricting type of anorexia nervosa (AN). She showed normal development until age 10 years when she started to play volleyball at school. She then became gradually anorexic, and her growth was stunted. At age 12, she was admitted to hospital because of severe anorexia and thinness. She was first thought to have AN, and drip infusion of glucose solution and high-calorie drinks were given, but her condition deteriorated further. She had a history of neonatal hepatitis and was therefore suspected to have citrin deficiency (CD). Genetic analysis of SLC25A13 revealed that she was compound heterozygous for 851del4 and IVS16ins3kb, and a diagnosis of CD was made. A low-carbohydrate diet with oral intake of arginine and ursodeoxycholic acid was started, and her condition gradually improved. The clinical features in our patient were similar to those of AN, and therefore AN may also be an important clinical sign in adolescent patients with CD.
authors.affiliation: Department of Pediatrics, Matsumoto Medical Center of Chu-shin-Matsumoto Hospital, Matsumoto, Japan;
authors.forename: Satsuki
authors.initials: S
authors.lastname: Takeuchi
authors.affiliation: Institute for Biomedical Sciences, Shinshu University, Matsumoto, Japan; Department of Medicine (Neurology and Rheumatology), Shinshu University School of Medicine, Matsumoto, Japan; mayazaki@shinshu-u.ac.jp.
authors.forename: Masahide
authors.initials: M
authors.lastname: Yazaki
authors.affiliation: Department of Pediatrics, Matsumoto Medical Center of Chu-shin-Matsumoto Hospital, Matsumoto, Japan;
authors.forename: Shinji
authors.initials: S
authors.lastname: Yamada
authors.affiliation: Department of Pediatrics, Nagano Red Cross Hospital, Nagano, Japan; and.
authors.forename: Tetsuhiro
authors.initials: T
authors.lastname: Fukuyama
authors.affiliation: Department of Psychosomatic Internal Medicine, Kagoshima University Graduate School of Medical and Dental Sciences, Kagoshima, Japan.
authors.forename: Akio
authors.initials: A
authors.lastname: Inui
authors.affiliation: Department of Pediatrics, Matsumoto Medical Center of Chu-shin-Matsumoto Hospital, Matsumoto, Japan;
authors.forename: Yasushi
authors.initials: Y
authors.lastname: Iwasaki
authors.affiliation: Institute for Biomedical Sciences, Shinshu University, Matsumoto, Japan; Department of Medicine (Neurology and Rheumatology), Shinshu University School of Medicine, Matsumoto, Japan;
authors.forename: Shu-ichi
authors.initials: S
authors.lastname: Ikeda
mesh_terms: D000293:Adolescent; D000855:Anorexia / Q000150:complications* / Q000175:diagnosis*; D000856:Anorexia Nervosa / Q000175:diagnosis*; D002135:Calcium-Binding Proteins / Q000172:deficiency*; D003677:Deficiency Diseases / Q000150:complications / Q000175:diagnosis; D003937:Diagnosis, Differential; D005260:Female; D006801:Humans; D027361:Organic Anion Transporters / Q000172:deficiency*; D012720:Severity of Illness Index
chemical_list: D002135:Calcium-Binding Proteins; D027361:Organic Anion Transporters; C008822:citrin