Auxotrophy-Based Detection of Hyperornithinemia in Mouse Blood and Urine
J. inborn errors metab. screen
;
4: e160015, 2016. graf
Article
in English
|
LILACS-Express
| LILACS
| ID: biblio-1090915
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.
Full text:
Available
Index:
LILACS (Americas)
Type of study:
Diagnostic study
Language:
English
Journal:
J. inborn errors metab. screen
Journal subject:
Medicina Cl¡nica
/
Patologia
Year:
2016
Type:
Article
/
Project document
Affiliation country:
United States
Institution/Affiliation country:
Central Connecticut State University/US
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