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Pathogenic mechanisms in Fabry disease.
1Department of Neurology, Peking University People's Hospital, Beijing, China.
Frontiers in Medicine
|July 8, 2026
Summary
Anderson-Fabry disease (FD) is a rare genetic disorder where an enzyme deficiency causes harmful substance buildup. This review details FD
Area of Science:
- Genetics and Molecular Biology
- Biochemistry
- Pathology
Background:
- Anderson-Fabry disease (FD) is a rare X-linked lysosomal storage disorder.
- It stems from deficient alpha-galactosidase A activity, leading to glycosphingolipid accumulation.
- Phenotypic variability is influenced by enzyme activity, mutation type, and X-chromosome inactivation.
Purpose of the Study:
- To synthesize current understanding of FD molecular and cellular pathogenesis.
- To highlight mechanisms underlying FD phenotypic variability.
- To integrate organ-specific manifestations of the disease.
Main Methods:
- Literature review of genetic, enzymatic, and metabolic dysregulation in FD.
- Analysis of pathogenic mechanisms including inflammation, oxidative stress, and mitochondrial impairment.
- Integration of multi-system involvement data.
Main Results:
- Gb3 and lyso-Gb3 accumulation drives cellular toxicity and secondary pathological processes.
- Pathogenesis involves lysosomal dysfunction, inflammation, oxidative stress, mitochondrial impairment, and autophagic defects.
- Multi-system manifestations include vasculopathy, cardiac, renal, CNS, and peripheral nervous system abnormalities.
Conclusions:
- FD pathogenesis is complex, involving multiple cellular and molecular pathways.
- Understanding these pathways is crucial for explaining FD's variable presentation.
- This review provides a comprehensive overview of FD pathogenesis and its clinical impact.
Keywords:
Fabry diseaseGb3 accumulationlysosomal storage disordermulti-system involvementα-galactosidase AMore Related Videos
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