Article
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.
Internal medicine (Tokyo, Japan) - 1 Jul 2002
Takashima Yasuhiro, Koide Makoto, Fukunaga Hideyuki, Iwai Masahide, Miura Masaki, Yoneda Ryoji, Fukuda Tsuneo, Kobayashi Keiko, Saheki Takeyori
Abstract excerpt
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...
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