An Overview of Molecular Mechanisms in Fabry Disease.
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ABSTRACT:
SUBMITTER: Amodio F
PROVIDER: S-EPMC9599883 | biostudies-literature | 2022 Oct
REPOSITORIES: biostudies-literature
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An Overview of Molecular Mechanisms in Fabry Disease.
Amodio Federica F Caiazza Martina M Monda Emanuele E Rubino Marta M Capodicasa Laura L Chiosi Flavia F Simonelli Vincenzo V Dongiglio Francesca F Fimiani Fabio F Pepe Nicola N Chimenti Cristina C Calabrò Paolo P Limongelli Giuseppe G
Biomolecules 20221012 10
Fabry disease (FD) (OMIM #301500) is a rare genetic lysosomal storage disorder (LSD). LSDs are characterized by inappropriate lipid accumulation in lysosomes due to specific enzyme deficiencies. In FD, the defective enzyme is α-galactosidase A (α-Gal A), which is due to a mutation in the <i>GLA</i> gene on the X chromosome. The enzyme deficiency leads to a continuous deposition of neutral glycosphingolipids (globotriaosylceramide) in the lysosomes of numerous tissues and organs, including endoth ...[more]
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