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.
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.
Department of Internal Medicine, Nishiwaki City General Hospital, Hyogo.
Yasuhiro
Y
Takashima
Makoto
M
Koide
Hideyuki
H
Fukunaga
Masahide
M
Iwai
Masaki
M
Miura
Ryoji
R
Yoneda
Tsuneo
T
Fukuda
Keiko
K
Kobayashi
Takeyori
T
Saheki
D000328:Adult; D020159:Citrullinemia / Q000150:complications / Q000175:diagnosis* / Q000235:genetics / Q000601:surgery*; D003244:Consciousness Disorders / Q000150:complications*; D004247:DNA / Q000032:analysis* / Q000235:genetics; D004252:DNA Mutational Analysis / Q000379:methods; D005260:Female; D006801:Humans; D022124:Hyperammonemia / Q000150:complications; D016031:Liver Transplantation / Q000379:methods*; D019520:Living Donors; D009154:Mutation / Q000235:genetics; D020127:Recovery of Function; D016896:Treatment Outcome
D004247:DNA