| Point mutations | Various missense and nonsense mutations that reduce or eliminate enzyme activity |
| Splice site mutations | Mutations that disrupt normal RNA splicing |
| Deletions | Larger deletions that remove part or all of the gene |
| HexA | A heterodimer of alpha and beta subunits (αβ) |
| HexB | A homodimer of beta subunits (ββ) |
| HexS | A homodimer of alpha subunits (αα) |
| Early signs | Weakness, poor head control, decreased alertness |
| Databases | OMIMOrphanetClinicalTrialsPubMed |
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