Article
Clinical, biochemical, and genetic aspects of Sjögren-Larsson syndrome.
Clinical genetics - 1 Apr 2018
Cho K H, Shim S H, Kim M
Abstract excerpt
Sjögren-Larsson syndrome (SLS) is caused by an autosomal recessive mutation in ALDH3A2, which encodes the fatty aldehyde dehydrogenase responsible for the metabolism of long-chain aliphatic aldehydes and alcohols. The pathophysiologic accumulation of aldehydes in various organs, including the skin, brain, and eyes, leads to characteristic features of ichthyosis, intellectual disability, spastic di-/quadriplegia,...
Topics
- Aldehyde Oxidoreductases
- Brain
- Cerebral Palsy
- Humans
- Intellectual Disability
- Mutation
- Phenotype
- Photophobia
- Sjogren-Larsson Syndrome
- Skin
- Visual Acuity