Fabry disease is caused by a mutation of the GLA gene, which encodes for the alpha-galactosidase A enzyme, vital for breaking down a fat molecule called globotriaosylceramide (Gb3 or GL-3). Defects in this process cause fat molecules to accumulate inside lysosomes, small structures within cells that accumulate, digest, and recycle materials.
Methods of diagnosing Fabry disease rely on tests that measure levels of the alpha-galactosidase A enzyme, which can be followed by genetic testing for the mutated GLA gene. However, these tests are usually performed after patients start developing symptoms, which are normally absent in the first years of life. This contributes to a delay in diagnosis.
The new diagnosis kit uses a technology called tandem mass spectrometry that measures the activity of alpha-galactosidase A, among other enzymes, in dried blood spots.
Mass spectrometry can identify and quantify proteins based on their mass-to-charge ratio. The advantages of mass spectrometry are its high sensitivity and accuracy.
PerkinElmer’s new kit is a standardized approach that reduces time and sample preparation and allows researchers to run hundreds of tests a day.
Moreover, with a single kit, researchers can test newborns for Fabry disease plus five other lysosomal storage disorders — Gaucher disease, Niemann-Pick A/B disease, Pompe disease, Krabbe disease, and Mucopolysaccharidosis I disease — all caused by defects in a particular lysosomal enzyme.
“PerkinElmer is the only company that offers a comprehensive [in vitro diagnostic] solution for analyzing these six [lysosomal storage disorders] from a single blood spot sample,” Naren Bhat, general manager, mass spectrometry for PerkinElmer, said in a press release.
“We continue to innovate and develop screenings for an increasing number of [lysosomal storage disorders] to meet the evolving needs of our customers,” Bhat said.