Therapeutic advances in Fabry disease: The future awaits.

doi:10.1016/j.biopha.2020.110779

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Article

Therapeutic advances in Fabry disease: The future awaits.

Biomedicine & pharmacotherapy = Biomedecine & pharmacotherapie - 1 Nov 2020

Kant Sam, Atta Mohamed G

Abstract excerpt

Fabry disease (FD) is an X-linked disorder caused by mutations in GLA gene responsible for coding of the lysosomal enzyme alpha-galactosidase A(α-GAL). The resultant accumulation of globotriaosylceramide (Gb-3) leads to multisystemic disease including progressive chronic kidney disease, hypertrophic cardiomyopathy, stroke, angiokeratomas and corneal whorls. Current treatments include enzyme replacement therapy...

Topics

Animals
Enzyme Replacement Therapy
Fabry Disease
Genetic Therapy
Humans
Molecular Chaperones
Mutation
RNA, Messenger
Trihexosylceramides
alpha-Galactosidase

Source

Open in PubMed

Identifiers

PMID: 33152937
DOI: 10.1016/j.biopha.2020.110779

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