| Pattern | Autosomal recessive |
| Carrier frequency | Approximately 1 in 200 in general population |
| Phytanic acid accumulation | Levels can reach 10-50 times normal (normal: < 30 μmol/L; patients: 300-3000 μmol/L) |
| Membrane incorporation | Phytanic acid incorporates into neuronal and retinal cell membranes |
| Oxidative stress | Accumulated phytanic acid promotes reactive oxygen species generation |
| Myelin dysfunction | Altered membrane properties affect nerve conduction<br>[^6] |
| Cardiac conduction abnormalities | Including bundle branch block |
| Mild cognitive impairment | In some patients |
| Skeletal abnormalities | Including epiphyseal dysplasia |
| Typical onset | Second to fourth decade |
| Range | 5-50 years |
| Retinitis pigmentosa | Usually first manifestation |
| Databases | OMIMOrphanetClinicalTrialsPubMed |
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