Other Names for this Disease
- Fatty aldehyde dehydrogenase deficiency
- FALDH deficiency
- FADH deficiency
- FAO deficiency
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Tests & Diagnosis
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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.
Last updated: 9/21/2012
- Sjogren-Larsson Syndrome. United Leukodystrophy Foundation. http://ulf.org/sjogren-larsson-syndrome. Accessed 9/21/2012.
- 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.