| Prevalence | 1 in 40,000 - 1 in 160,000 (varies by population) |
| Carrier Frequency | ~1 in 40-80 in general population |
| Founder Mutations | Common in Amish, Mennonite, Portuguese populations |
| [ARSA](/genes/arsa)-Pseudodeficiency | Common variant with reduced but not absent enzyme activity |
| No Clinical Symptoms | Usually benign; can complicate diagnosis |
| Missense Mutations | Most common; genotype-phenotype correlation variable |
| Nonsense Mutations | Often cause severe (infantile) form |
| Splice Site Mutations | Can cause frameshift and premature termination |
| Large Deletions | Less common, severe phenotype |
| Databases | OMIMOrphanetClinicalTrialsPubMed |
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