| Prognosis | Without treatment, most die within 3-5 years of symptom onset |
| Missense mutations | ~60% of cases — affect protein folding, trafficking, or function |
| Nonsense mutations | ~15% — premature stop codons, complete loss of function |
| Frameshift mutations | ~15% — insertions/deletions causing truncations |
| Splice site mutations | ~10% — abnormal mRNA processing |
| Large deletions | Rare — complete or partial gene loss |
| ABCD2 | Partial functional redundancy with ABCD1, may compensate when ABCD1 is deficient |
| ABCD3 | Also can transport VLCFA-CoA, may modify severity |
| PEX genes | Peroxisome biogenesis genes that affect overall peroxisomal function |
| APOE | May influence cerebral ALD progression |
| X-linked recessive | Primarily affects males |
| Female carriers | May develop mild AMN-like symptoms due to skewed X-inactivation (~20-50%) |
| Databases | OMIMOrphanetClinicalTrialsPubMed |
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