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.
Intern Med
; 41(7): 555-60, 2002 Jul.
Article
em En
| MEDLINE
| ID: mdl-12132524
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.
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Coleções:
01-internacional
Base de dados:
MEDLINE
Assunto principal:
DNA
/
Transplante de Fígado
/
Transtornos da Consciência
/
Doadores Vivos
/
Citrulinemia
Tipo de estudo:
Diagnostic_studies
/
Prognostic_studies
Limite:
Adult
/
Female
/
Humans
Idioma:
En
Revista:
Intern Med
Ano de publicação:
2002
Tipo de documento:
Article