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Diseases

Genetic and Rare Diseases Information Center (GARD)

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Sjogren-Larsson syndrome


Other Names for this Disease

  • FADH deficiency
  • FALDH deficiency
  • FAO deficiency
  • Fatty aldehyde dehydrogenase deficiency
  • Ichthyosis, spastic neurologic disorder, and oligophrenia
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Cause

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What causes Sjogren-Larsson syndrome (SLS)?

SLS is caused mutations in the FADH (fatty aldehyde dehydrogenase) gene, which is located on chromosome 17 on the p arm at band 11.2. The enzyme made by the FADH gene is responsible for breaking down certain molecules called medium- and long-chain fatty aldehydes. If FADH is not functioning properly, these and related molecules build up in the body, specifically the membranes of the skin and brain, leading to the symptoms associated with SLS.[1][2]
Last updated: 9/21/2012

References
  1. Sjogren-Larsson Syndrome. United Leukodystrophy Foundation. http://ulf.org/sjogren-larsson-syndrome. Accessed 9/21/2012.
  2. Rizzo WB. Sjogren-Larsson Syndrome: Molecular Genetics and Biochemical Pathogenesis of Fatty Aldehyde Dehydrogenase Deficiency. Mol Genet Metab. September 22, 2006; http://www.ncbi.nlm.nih.gov/pmc/articles/PMC1933507/?tool=pubmed. Accessed 9/21/2012.


Other Names for this Disease
  • FADH deficiency
  • FALDH deficiency
  • FAO deficiency
  • Fatty aldehyde dehydrogenase deficiency
  • Ichthyosis, spastic neurologic disorder, and oligophrenia
See Disclaimer regarding information on this site. Some links on this page may take you to organizations outside of the National Institutes of Health.