Increased liver tests and hepatomegaly: Is there an increased prevalence of Gaucher disease in this population?

Abstract

The screening was performed using a dried bloodspot on Whatman paper 906. The enzymes were measured with a LC-MS-MS method according to the protocol of CDC (Centre of disease control and prevention). The method was validated for stability of the enzymes in the dried blood spot and variability. All runs were controlled with external controls from CDC and blanc correction was adapted. Cut-off values were 3 umol/l/h has been proposed and used by the reference center.