Case report: enzyme replacement therapy for Fabry disease presenting with proteinuria and ventricular septal thickening
Abstract Fabry disease (FD) is an uncommon, X-linked, lysosomal storage disease that causes defects in the glycosphingolipid metabolic pathway due to deficient or absent lysosomal α-galactosidase (α-Gal A) activity. This leads to the accumulation of globotriaosylceramide (GL-3) within lysosomes in a...
Main Authors: | , , , |
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Format: | Article |
Language: | English |
Published: |
BMC
2024-02-01
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Series: | BMC Nephrology |
Subjects: | |
Online Access: | https://doi.org/10.1186/s12882-024-03499-w |