| Classic phenotype | <1% residual α-Gal A activity, onset in childhood, multi-organ involvement |
| Later-onset phenotype | 2–20% residual activity, predominantly cardiac or renal manifestations |
| Amenable variants | Certain missense mutations respond to pharmacological chaperone therapy with migalastat |
| Valvular disease | Mitral valve prolapse and aortic regurgitation due to GL-3 infiltration of valve leaflets |
| Heart failure | End-stage manifestation; both systolic and diastolic dysfunction occur as fibrosis replaces hypertrophied myocardium |
| Biomarkers | Elevated troponin T, NT-proBNP, and cardiac MRI with T1 mapping are used for monitoring; native T1 reduction on MRI precedes LVH (Nordin et al., 2018) |
| Pathophysiology | GL-3 accumulation in podocytes, mesangial cells, tubular epithelium, and vascular endothelium leads to progressive glomerulosclerosis and tubulointerstitial fibrosis |
| Clinical progression | Microalbuminuria (typically appearing in the teens-20s) → overt proteinuria → declining GFR → end-stage renal disease. Median age of ESRD in untreated males: ~38 years |
| Characteristic biopsy findings | Foamy podocytes with zebra body inclusions on electron microscopy; segmental and global glomerulosclerosis |
| Databases | OMIMOrphanetClinicalTrialsPubMed |
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