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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
More Names
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Tests & Diagnosis


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How is Sjogren-Larsson syndrome (SLS) diagnosed?

SLS can be diagnosed by a biochemical blood test that determines if FADH activity is normal. In addition, because mutations in FADH are known to cause SLS, the gene can be sequenced in order to determine if any mutations are present. This also provides the option of genetic and prenatal testing, which can allow parents to make informed decisions about having children.[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.