Metabolic Fingerprinting of Fabry Disease: Diagnostic and Prognostic Aspects

Metabolic Fingerprinting of Fabry Disease: Diagnostic and Prognostic Aspects

Fabry disease (FD) is an X-linked lysosomal disease due to a deficiency in the activity of the lysosomal-galactosidase A (GalA), a key enzyme in the glycosphingolipid degradation pathway. FD is a complex disease with a poor genotype–phenotype correlation. In the early stages, FD could involve the pe...

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Bibliographic Details
Main Authors: Maria Teresa Rocchetti, Federica Spadaccino, Valeria Catalano, Gianluigi Zaza, Giovanni Stallone, Daniela Fiocco, Giuseppe Stefano Netti, Elena Ranieri
Format: Article
Language:English
Published: MDPI AG 2022-07-01
Series:Metabolites
Subjects:
Fabry disease
lysosomal storage diseases
metabolomics
LysoGb3
systems biology
Online Access:https://www.mdpi.com/2218-1989/12/8/703

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https://www.mdpi.com/2218-1989/12/8/703

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