Introduction: Fabry disease is an inborn error of metabolism caused by mutations in the alpha-galactosidase gene (GLA) located on the X chromosome, resulting in ...
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A team of international scientists has uncovered the genetic underpinnings of a rare, inherited autoimmune disorder, according to a study recently published in Science Translational Medicine.
In patients with Fabry disease, a pathogenic variant in the galactosidase alpha (GLA) gene leads to α-galactosidase A (aGAL-A) enzyme deficiency, which in turn results in a progressive ...
Produced by ElevenLabs and News Over Audio (NOA) using AI narration. DNA might contain health information, but unlike a doctor’s office, 23andMe is not bound by the health-privacy law HIPAA.