Auxotrophy-Based Detection of Hyperornithinemia in Mouse Blood and Urine
J. inborn errors metab. screen
; 4: e160015, 2016. graf
Artigo
em Inglês
|
LILACS-Express
| LILACS
| ID: biblio-1090915
Biblioteca responsável:
BR1.1
ABSTRACT
Abstract Gyrate atrophy of the choroid and retina (GACR) is a hereditary form of progressive blindness caused by homozygosity for loss-of-function mutations in the ornithine aminotransferase gene (Oat). The high levels of circulating ornithine that lead to ophthalmic symptoms in young adults are also displayed by 2 ornithine aminotransferase (OAT)-deficient mouse models of GACR. Here, we have developed an inexpensive and quantitative bacteria-based test for detecting hyperornithinemia in blood or urine samples from these mutant mice, a test that we suggest could be used to facilitate the identification and treatment of OAT-deficient humans before the onset of visual impairment.
Texto completo:
Disponível
Coleções:
Bases de dados internacionais
Base de dados:
LILACS
Tipo de estudo:
Estudo diagnóstico
Idioma:
Inglês
Revista:
J. inborn errors metab. screen
Assunto da revista:
Medicina Cl¡nica
/
Patologia
Ano de publicação:
2016
Tipo de documento:
Artigo
/
Documento de projeto
País de afiliação:
Estados Unidos
Instituição/País de afiliação:
Central Connecticut State University/US