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Autosomal recessive as well as dominant diseases due to disturbed sphingolipid biosynthesis have been identified, including defects in the synthesis of ceramides, sphingomyelins and glycosphingolipids. In many instances, these gene variants result in the loss of catalytic function of the mutated enzymes. Additional gene defects implicate the subcellular localization of the sphingolipid\u2010synthesizing enzyme, the regulation of its activity, or even the function of a sphingolipid\u2010transporter protein. The resulting metabolic alterations lead to two major, non\u2010exclusive types of clinical manifestations: a neurological disease, more or less rapidly progressive, associated or not with intellectual disability, and an ichthyotic\u2010type skin disorder. These phenotypes highlight the critical importance of sphingolipids in brain and skin development and homeostasis. 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