Sjogren-Larsson Syndrome: Mechanisms and Management

Abstract excerpt

Abstract: Sjogren Larsson syndrome (SLS) is a rare autosomal recessive inborn error of lipid metabolism due to mutations in the ALDH3A2 that result in a deficiency of fatty aldehyde dehydrogenase (FALDH). The syndrome has a high prevalence in Sweden where it was first described, but now known to occur worldwide. The classical triad of ichthyosis, mental retardation and spasticity characterizes clinical features....

Topics

Share this publication in a Topic to start or enrich a Post.

• Share to Biochemical effects in animals
• Share to Lipid Membrane Structure and Behavior
• Share to Skin and Cellular Biology Research