Mutations are dominant and result in production of neurotoxic desoxysphingolipids. Garafalo et al., 2011 showed a potential for treatment using oral L-serine, which reduces the production of neurotoxic lipids.
Verhoeven et al., 2004 reported the G387A mutation, but later work (Hornemann et al., 2009) suggests the mutation is not causative.
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