Novel mutation in Sjogren-Larsson syndrome is associated with divergent neurologic phenotypes

• Published in: Journal of child neurology Vol. 28; no. 10; p. 1259
• Main Authors: Davis, Kathleen, Holden, Kenton R, S'Aulis, Dana, Amador, Claudia, Matheus, M Gisele, Rizzo, William B
• Format: Journal Article
• Language: English
• Published: United States 01.10.2013
• Subjects: Aldehyde Oxidoreductases - genetics; Aldehyde Oxidoreductases - metabolism; Child, Preschool; Female; Fibroblasts - metabolism; Humans; Ichthyosis - genetics; Ichthyosis - metabolism; Lipid Metabolism - genetics; Male; Mutation; Phenotype; Severity of Illness Index; Sjogren-Larsson Syndrome - genetics; Sjogren-Larsson Syndrome - metabolism; phenotype; mutation; aldehyde dehydrogenase; fatty alcohol; Sjögren-Larsson; spasticity; ichthyosis; neurologic

Sjögren-Larsson syndrome is an inherited disorder of lipid metabolism caused by mutations in the ALDH3A2 gene that codes for fatty aldehyde dehydrogenase, which results in accumulation of fatty aldehydes and alcohols and is characterized by ichthyosis, intellectual disability, and spastic diplegia/q...