| Reduced iron export | Iron cannot be efficiently exported from cells, causing intracellular iron accumulation |
| Increased free radicals | Fe[@hellman2000]⁺ generates hydroxyl radicals through Fenton chemistry, causing oxidative damage |
| Tissue iron overload | Iron accumulates in the brain (particularly the basal ganglia, thalamus, and cerebellum), liver, pancreas, and retina[@miyajima1999] |
| Movement disorders | Tremor, ataxia, chorea, dystonia, and parkinsonism |
| Cognitive decline | Progressive dementia resembling Alzheimer's or Huntington's Disease |
| Psychiatric symptoms | Depression, anxiety, personality changes |
| Seizures | Focal or generalized seizures may occur |
| Visual disturbances | Retinal degeneration and macular atrophy leading to progressive vision loss[@miyajima2015] |
| Anemia | Microcytic, hypochromic anemia despite iron overload (paradoxical iron sequestration) |
| Hepatomegaly | Liver enlargement due to hepatic iron accumulation |
| Diabetes mellitus | Iron-induced pancreatic β-cell dysfunction |
| Retinal degeneration | Progressive retinopathy with bone spicule pigmentation |
| Databases | OMIMOrphanetClinicalTrialsPubMed |