Abstract
Fabry disease is an X-linked lysosomal multisystem storage disorder induced by a mutation in the alpha-galactosidase A (GLA) gene. Reduced activity or deficiency of alpha-galactosidase A (AGAL) leads to escalating storage of intracellular globotriaosylceramide (GL-3) in numerous organs, including the kidneys, heart and nerve system. The established treatment for 20 years is intravenous enzyme replacement therapy. Lately, oral chaperone therapy was introduced and is a therapeutic alternative in patients with amenable mutations. Early starting of therapy is essential for long-term improvement. This review describes chaperone therapy in Fabry disease.
Highlights
Fabry disease (FD) is a multisystem lysosomal storage disorder induced by a mutation in the alpha-galactosidase A (GLA) gene located on the X chromosome [1]
This review describes the chaperone therapy in Fabry disease
The good laboratory practice (GLP) human embryonic kidney cells (HEK) assay by Benjamin et al seems to be the gold standard and only patients with amenable mutations assessed by this method should be treated with Migalastat [30]
Summary
Fabry disease (FD) is a multisystem lysosomal storage disorder induced by a mutation in the alpha-galactosidase A (GLA) gene located on the X chromosome [1]. Whereas hsTnT indicates mainly myocardial fibrosis in hypertrophic left ventricles, NT-proBNP is elevated in end-stage Fabry cardiomyopathy. Both blood biomarkers are part of the important diagnostic tools to initiate and to monitor chaperone therapy. Even though blood tests are comfortable to do, a large number of patients are diagnosed late during the disease progression, because symptoms can vary extremely and it is challenging to designate broad clinical symptoms to this very rare disease. Overall, it takes 10 years from the first symptom to the appropriate diagnosis of FD.
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