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Copyright: ©Author(s) 2026.
World J Hepatol. Sep 27, 2026; 18(9): 123969
Published online Sep 27, 2026. doi: 10.4254/wjh.123969
Table 1 Summary of hereditary liver diseases pathophysiology and current therapies
Disease
Genetic defect
Core pathology
Current therapies
Limitations
WDATP7BCopper overload → ROS → apoptosis/fibrosisChelators
(Dpenicillamin), zinc
Lifelong use; neurotoxicity
AATDSERPINA1Z-AAT aggregation → ER stress → fibrosisAAT augmentation (lungs), transplantationNo liver-targeted therapy
HHHFEHepcidin deficiency → iron overload → ferroptosisPhlebotomy, chelatorsPoor adherence; toxicity
GSDGlycogen metabolism genesHypoglycemia → metabolic dysregulationDietary managementNo cure; transplantation-dependent


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