| Missense mutations | The most common type, affecting enzyme folding, stability, or catalytic activity |
| Nonsense mutations | Create premature stop codons, leading to truncated non-functional proteins |
| Splice site mutations | Cause abnormal mRNA processing, producing aberrant protein isoforms |
| Deletions/Insertions | Can cause frameshifts and premature termination |
| Oligodendrocyte apoptosis | Psychosine directly induces programmed cell death in myelin-producing cells |
| Inflammation | Accumulated lipids trigger inflammatory responses, recruiting microglia and macrophages |
| Oxidative stress | Increases reactive oxygen species production, damaging myelin sheaths |
| Axonal degeneration | Secondary axonal loss occurs as a consequence of demyelination |
| General population | Approximately 1 in 100,000-200,000 births |
| Ashkenazi Jewish | Higher carrier frequency of the 30 kb deletion |
| Specific populations | Higher incidence reported in certain isolated communities due to founder effects |
| Extreme irritability | Often described as colicky, with inconsolable crying |
| Databases | OMIMOrphanetClinicalTrialsPubMed |