ALDH3A2 mutations have been identified in all patients with SLS.3 To date, more than 100 mutations in the ALDH3A2 gene have been described,4 and all patients, except some extremely rare cases, appear to suffer from essentially the same, aforementioned clinical triad of symptoms, with only minor variations in severity.5, 6, 7, 8, 9. This evidence concerns the gene ALDH3A2 and Sjogren-Larsson syndrome.