is a rare neurocutaneous recessively inherited autosomal disease with spasticity (tetraplegia or diplegia), congenital ichthyosis and intellectual disability (mild to moderate). Less commonly, they are born preterm with retinal perifoveal crystalline inclusions and in some reports retinal pigmentary degeneration in the macular region, short stature, kyphoscoliosis, seizures, and delayed speech (Rizzo, 2016). The incriminated genetic mutation in SLS is the ALDH3A2 gene mutation; Gene/Locus MIM number 609523. ALDH3A2 gene encodes fatty aldehyde dehydrogenase enzyme (FALDH), an enzyme that catalyzes the oxidation of the fatty aldehyde to fatty acid (Rizzo, 2014).
scite is a Brooklyn-based organization that helps researchers better discover and understand research articles through Smart Citations–citations that display the context of the citation and describe whether the article provides supporting or contrasting evidence. scite is used by students and researchers from around the world and is funded in part by the National Science Foundation and the National Institute on Drug Abuse of the National Institutes of Health.