Progress in the understanding and treatment of Fabry disease.

ABSTRACT:

Background

Fabry disease is caused by α-galactosidase A deficiency. Substrates of this lysosomal enzyme accumulate, resulting in cellular dysfunction. Patients experience neuropathic pain, kidney failure, heart disease, and strokes.

Scope of review

The clinical picture and molecular features of Fabry disease are described, along with updates on disease mechanisms, animal models, and therapies.

Major conclusions

How the accumulation of α-galactosidase A substrates, mainly glycosphingolipids, leads to organ damage is incompletely understood. Enzyme replacement and chaperone therapies are clinically available to patients, while substrate reduction, mRNA-based, and gene therapies are on the horizon. Animal models exist to optimize these therapies and elucidate disease mec

SUBMITTER: Miller JJ 

PROVIDER: S-EPMC6981246 | biostudies-literature | 2020 Jan

REPOSITORIES: biostudies-literature