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Task D-004 · Type D — Disease → mechanism
By what mechanism does alpha-galactosidase A deficiency lead to multisystem damage in Fabry disease?
Difficulty
medium
Rarity stratum
high
Evidence type
review consensus
MONDO ID
MONDO:0010526
Curator notes
None material — Gb3/lyso-Gb3 lysosomal accumulation mechanism is consistently described.
Generation outcome
Abstained
No
Abstention correct
Yes
Gold in retrieved
2.00
Generation cost
$0.000469
Claims
3
Supported
3
Contradicted
0
Unverifiable
0
Gold documents (3)
- Fabry disease cardiomyopathy: A state-of-the-art review.
- Treatment of Anderson-Fabry Disease.
- Biomarkers in Anderson-Fabry Disease.
Retrieved documents (6)
- Treatment of Anderson-Fabry Disease.pubmed:32183665gold
- Nucleoside-Modified mRNA Encoding Alpha-Galactosidase A Ameliorates Fabry Disease Phenotypes in Human IPSC-Derived Cardiomyocytes.pubmed:42591063
- Anderson-Fabry disease in heart failure.pubmed:29909504
- Fabry disease cardiomyopathy: A state-of-the-art review.pubmed:40840785gold
- Early Atrial Remodeling Drives Arrhythmia in Fabry Disease.pubmed:40557493
- A composite measurement concept for monitoring cardiac function in Fabry disease.pubmed:40722192
Generated claims (3)
supportedconfidence 0.95
Alpha-galactosidase A deficiency leads to accumulation of globotriaosylceramide (Gb3) in lysosomes.
pubmed:40557493pubmed:42591063pubmed:40840785pubmed:29909504
supportedconfidence 0.90
Gb3 accumulation induces pathology via the release of pro-inflammatory cytokines, growth-promoting factors, and oxidative stress.
pubmed:29909504
supportedconfidence 0.90
This results in myocardial extracellular matrix remodelling, left ventricular hypertrophy, vascular dysfunction, interstitial fibrosis, and cardiac arrhythmias.
pubmed:40840785pubmed:40557493pubmed:29909504