The use and performance of lyso-Gb3 for the diagnosis and monitoring of Fabry disease: A systematic literature review.
Ramaswami Uma, West Michael L, Tylee Karen, +6 more·Molecular genetics and metabolism
BACKGROUND: Fabry disease (FD) is a rare, X-linked lysosomal storage disorder in which a lack of alpha-galactosidase (α-Gal A) enzyme activity leads to intracellular accumulation of deacylated globotriaosylceramide (Gb3) and globotriaosylsphingosine (lyso-Gb3), and their analogs. Lyso-Gb3, present in the blood an…