Article
Sjogren-Larsson syndrome.
Advances in experimental medicine and biology - 1 Jan 2012
Dutra Lívia Almeida, Braga-Neto Pedro, Pedroso José Luiz, Povoas Barsottini Orlando Graziani
Abstract excerpt
Sjogren-Larsson syndrome is a rare disease characterized by the occurrence of mental retardation, spastic diplegia and ichthyosis. The involvement of brain and skin is justified by a mutation in FALDH gene that affects the metabolism of fatty acids and leads to abnormal accumulation of lipids. The normal formation of multilamellar membranes in the stratum corneum and myelin is impaired. The aim of this chapter is...
Topics
- Aldehyde Oxidoreductases
- Humans
- Mutation
- Sjogren-Larsson Syndrome