Document Detail


Conventional diet therapy for hyperammonemia is risky in the treatment of hepatic encephalopathy associated with citrin deficiency.
MedLine Citation:
PMID:  20118603     Owner:  NLM     Status:  MEDLINE    
Abstract/OtherAbstract:
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:
Kazuhiro Fukushima; Masahide Yazaki; Mio Nakamura; Naoki Tanaka; Keiko Kobayashi; Takeyori Saheki; Hideki Takei; Shu-ichi Ikeda
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Publication Detail:
Type:  Case Reports; Journal Article; Research Support, Non-U.S. Gov't     Date:  2010-02-01
Journal Detail:
Title:  Internal medicine (Tokyo, Japan)     Volume:  49     ISSN:  1349-7235     ISO Abbreviation:  Intern. Med.     Publication Date:  2010  
Date Detail:
Created Date:  2010-02-01     Completed Date:  2010-05-17     Revised Date:  -    
Medline Journal Info:
Nlm Unique ID:  9204241     Medline TA:  Intern Med     Country:  Japan    
Other Details:
Languages:  eng     Pagination:  243-7     Citation Subset:  IM    
Affiliation:
The Third Department of Medicine (Neurology and Rheumatology), Shinshu University School of Medicine, Matsumoto.
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MeSH Terms
Descriptor/Qualifier:
Arginine / therapeutic use*
Citrullinemia / chemically induced,  complications*
Diet, Protein-Restricted / adverse effects*
Dietary Supplements*
Gene Deletion
Hepatic Encephalopathy / complications,  diet therapy*,  etiology
Humans
Hyperammonemia / diet therapy*
Male
Middle Aged
Mitochondrial Membrane Transport Proteins / genetics
Chemical
Reg. No./Substance:
0/Mitochondrial Membrane Transport Proteins; 0/SLC25A13 protein, human; 74-79-3/Arginine

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