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Article

Maturation of Lysosomal α-Galactosidase A and Implications for Fabry Disease.

Nephron - 1 Jan 2025

Aral Efecan, Garman Scott C

Abstract excerpt

BACKGROUND: Fabry disease is an inherited metabolic disease that is caused by an abnormal accumulation of sphingolipids, including globotriaosylceramide (Gb3), in lysosomes. Patients with Fabry disease have insufficient levels or no total activity of an enzyme called α-galactosidase A, which catalyzes the removal of terminal α-galactose saccharides from substrates such as Gb3. SUMMARY: Because of the monogenetic...

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PMID: 40527302
DOI: 10.1159/000546916

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