Clinica chimica acta; international journal of clinical chemistry · 2015
Comparing the alpha-galactosidase A biochemical properties from healthy individuals and Fabry disease patients.
Сравнительное исследованиеСтатьяПоддержка исследования: вне правительства СШАНазвание и аннотация: Перевод пока не подготовлен
Обработка статьи · этапы, ошибки и управление
Загрузка состояния…
Ошибки и ограничения
История · было → стало
Состояние обновляется каждые 5 секунд, пока блок открыт. Процент показывается только там, где известен объём работы. Пауза останавливает продолжение этапа; текущий запрос к источнику может завершиться.
Daitx Vanessa Vitcoski, Mezzalira Jamila, Moraes Vitória da Costa, Breier Ana Carolina, Cé Jaqueline, Coelho Janice Carneiro
Аннотация
BACKGROUND: Due to the importance and the difficulty still present in determining the biochemical diagnosis of Fabry disease (FD), the aim of this study was to establish and compare the biochemical and kinetic properties of alpha-galactosidase A (GLA) in dried blood spots (DBS), plasma and leukocyte samples of FD patients and healthy subjects to evaluate the possible use of these parameters as an auxiliary tool in the diagnosis of this disease.
METHODS: GLA activity in DBS, plasma and leukocyte samples from Fabry disease patients and healthy subjects was compared and characterized in terms of optimal pH, Km and Vmax and heat stability.
RESULTS: A difference was observed between the Km and Vmax of FD patients and healthy controls using DBS, plasma and leukocyte samples. In leukocytes, pre-incubation at 50°C for 60 min was effective to differentiate FD patients from healthy controls.
CONCLUSION: These results can be used as an auxiliary method to the FD diagnosis, especially in cases of patients whose GLA activity is within normal range.
METHODS: GLA activity in DBS, plasma and leukocyte samples from Fabry disease patients and healthy subjects was compared and characterized in terms of optimal pH, Km and Vmax and heat stability.
RESULTS: A difference was observed between the Km and Vmax of FD patients and healthy controls using DBS, plasma and leukocyte samples. In leukocytes, pre-incubation at 50°C for 60 min was effective to differentiate FD patients from healthy controls.
CONCLUSION: These results can be used as an auxiliary method to the FD diagnosis, especially in cases of patients whose GLA activity is within normal range.