Auxotrophy-Based Detection of Hyperornithinemia in Mouse Blood and Urine
AUTOR(ES)
Palanza, Kenneth M.
FONTE
J. inborn errors metab. screen.
DATA DE PUBLICAÇÃO
30/05/2019
RESUMO
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.
Documentos Relacionados
- LightCycler-Based Quantitative PCR for Detection of Cytomegalovirus in Blood, Urine, and Respiratory Samples
- Detection of Toxoplasma gondii tachyzoites and bradyzoites in blood, urine, and brains of infected mice.
- Evaluation of a nested-pcr for Mycobacterium tuberculosis detection in blood and urine samples
- Diagnosis of Human Leptospirosis by Monoclonal Antibody-Based Antigen Detection in Urine
- Nitrazepam (Mogadon) in blood serum and urine and librium in urine
