Sjogren-Larsson syndrome

Definition:

Sjogren-Larsson syndrome is an autosomal recessive neurocutaneous disorder caused by deficiency of microsomal fatty aldehyde dehydrogenase in fatty alcohol metabolism and characterized by congenital ichthyosis.

References:

[1]. Neil Gordon, et al. Sjögren-Larsson syndrome. Dev Med Child Neurol. 2007 Feb;49(2):152-4. [Content Brief]

[2]. William B Rizzo, et al. Sjögren-Larsson syndrome: diversity of mutations and polymorphisms in the fatty aldehyde dehydrogenase gene (ALDH3A2). Hum Mutat. 2005 Jul;26(1):1-10. [Content Brief]

[3]. William B Rizzo, et al. Sjögren-Larsson syndrome: molecular genetics and biochemical pathogenesis of fatty aldehyde dehydrogenase deficiency. Mol Genet Metab. 2007 Jan;90(1):1-9. [Content Brief]

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