Internal Medicine
Online ISSN : 1349-7235
Print ISSN : 0918-2918
ISSN-L : 0918-2918
Recovery from Marked Altered Consciousness in a Patient with Adult-onset Type II Citrullinemia Diagnosed by DNA Analysis and Treated with a Living Related Partial Liver Transplantation
Yasuhiro TAKASHIMA, Makoto KOIDE, Hideyuki FUKUNAGA, Masahide IWAI, Masaki MIURA, Ryoji YONEDA, Tsuneo FUKUDA, Keiko KOBAYASHI, Takeyori SAHEKI
Author information
Keywords: citrulline, citrin, SLC25A13, coma, argininosuccinate synthetase, urea cycle
JOURNAL FREE ACCESS

2002 Volume 41 Issue 7 Pages 555-560

Details
Download PDF (1703K)
Download citation RIS

(compatible with EndNote, Reference Manager, ProCite, RefWorks)

BIB TEX

(compatible with BibDesk, LaTeX)

Text
How to download citation
Contact us
Abstract

A 21-year-old woman was admitted with altered consciousness and hyperammonemia. She was diagnosed as having adult-onset type II citrullinemia (CTLN2) by DNA analysis. The patient had mutations of the SLC25A13 gene, which were compound heterozygotes of 851 del 4 and IVS11+1G>A. CTLN2 has a poor prognosis, in spite of various intensive medications, and we performed a living related partial liver transplantation (LRLT). Over a 2-year follow-up, the patient has been well. CTLN2 can be diagnosed by the DNA analysis and can be treated by LRLT.
(Internal Medicine 41: 555-560, 2002)

Content from these authors
© The Japanese Society of Internal Medicine
Previous article Next article
Favorites & Alerts

Recently viewed articles
Predecessor

Japanese Journal of Medicine

Share this page
feedback
 Top