Biomarkers in Fabry Disease. Implications for Clinical Diagnosis and Follow-up.

ABSTRACT: Fabry disease (FD) is a lysosomal storage disorder caused by deficient alpha-galactosidase A activity in the lysosome due to mutations in the GLA gene, resulting in gradual accumulation of globotriaosylceramide and other derivatives in different tissues. Substrate accumulation promotes different pathogenic mechanisms in which several mediators could be implicated, inducing multiorgan lesions, mainly in the kidney, heart and nervous system, resulting in clinical manifestations of the disease. Enzyme replacement therapy was shown to delay disease progression, mainly if initiated early. However, a diagnosis in the early stages represents a clinical challenge, especially in patients with a non-classic phenotype, which prompts the search for biomarkers that help detect and predict the evolution

SUBMITTER: Carnicer-Caceres C 

PROVIDER: S-EPMC8068937 | biostudies-literature | 2021 Apr

REPOSITORIES: biostudies-literature