Article

Sex differences in alpha galactosidase protein processing and its impact on disease severity in Fabry disease

2025-09-17

Abstract excerpt

Fabry disease (FD) is an X-linked disorder due to mutations in the α-galactosidase A (GLA) gene. The condition is characterized by low GLA activity and accumulation of toxic sphingolipids. Some patients present full disease symptoms whereas others have one system affected, generally the heart or kidney. This suggests that a mutation in the GLA gene is necessary to cause FD, but other factors may contribute to its...

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Literature Corpus work: ff46ad82-7b47-5f07-a0a7-002f8a730ca5
DOI: 10.1101/2025.09.16.676554

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