Internal Medicine
Online ISSN : 1349-7235
Print ISSN : 0918-2918
ISSN-L : 0918-2918
CASE REPORTS
Conventional Diet Therapy for Hyperammonemia is Risky in the Treatment of Hepatic Encephalopathy Associated with Citrin Deficiency
Kazuhiro FukushimaMasahide YazakiMio NakamuraNaoki TanakaKeiko KobayashiTakeyori SahekiHideki TakeiShu-ichi Ikeda
Author information
JOURNALS OPEN ACCESS

2010 Volume 49 Issue 3 Pages 243-247

Details
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.

Information related to the author
© 2010 by The Japanese Society of Internal Medicine
Previous article Next article
feedback
Top