title: Conventional diet therapy for hyperammonemia is risky in the treatment of hepatic encephalopathy associated with citrin deficiency.
abstract: Citrin deficiency caused by SLC25A13 gene mutations develops into adult-onset type II citrullinemia (CTLN2) presenting with hepatic encephalopathy. Recent studies have suggested that excessive loading of carbohydrates is harmful in citrin-deficient individuals. Here we report a CTLN2 patient who showed further deterioration of encephalopathy after the employment of conventional low-protein diet therapy for chronic liver failure. Owing to the high carbohydrate content, the conventional low-protein diet therapy should be avoided in patients with hepatic encephalopathy associated with citrin deficiency. In addition, our observation may suggest that carbohydrate-restricted diet in which the content of carbohydrate is below 50% of daily energy intake can have therapeutic efficacy in CTLN2 patients.
authors.affiliation: The Third Department of Medicine (Neurology and Rheumatology), Shinshu University School of Medicine, Matsumoto.
authors.forename: Kazuhiro
authors.initials: K
authors.lastname: Fukushima
authors.forename: Masahide
authors.initials: M
authors.lastname: Yazaki
authors.forename: Mio
authors.initials: M
authors.lastname: Nakamura
authors.forename: Naoki
authors.initials: N
authors.lastname: Tanaka
authors.forename: Keiko
authors.initials: K
authors.lastname: Kobayashi
authors.forename: Takeyori
authors.initials: T
authors.lastname: Saheki
authors.forename: Hideki
authors.initials: H
authors.lastname: Takei
authors.forename: Shu-ichi
authors.initials: S
authors.lastname: Ikeda
mesh_terms: D001120:Arginine / Q000627:therapeutic use*; D020159:Citrullinemia / Q000139:chemically induced / Q000150:complications*; D018753:Diet, Protein-Restricted / Q000009:adverse effects*; D019587:Dietary Supplements; D017353:Gene Deletion; D006501:Hepatic Encephalopathy / Q000150:complications / Q000178:diet therapy* / Q000209:etiology; D006801:Humans; D022124:Hyperammonemia / Q000178:diet therapy*; D008297:Male; D008875:Middle Aged; D033681:Mitochondrial Membrane Transport Proteins / Q000235:genetics
chemical_list: D033681:Mitochondrial Membrane Transport Proteins; C119629:SLC25A13 protein, human; D001120:Arginine