Sjogren-Larsson syndrome

Common Name(s)

Sjogren-Larsson syndrome

Sjogren-Larsson syndrome (SLS) is an inborn error of lipid metabolism, characterized by congenital ichthyosis (dry, scaly skin), mental retardation, and spasticity (stiffness and involuntary muscle spasms).  The syndrome is caused by mutations in the gene called FADH (fatty aldehyde dehydrogenase) and is inherited in an autosomal recessive fashion. Treatment is symptomatic.
 

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Advocacy and Support Organizations

 

Condition Specific Organizations

Following organizations serve the condition "Sjogren-Larsson syndrome" for support, advocacy or research.

There are currently no organizations listed in Disease InfoSearch that support this condition. Create a listing.

 

 

General Support Organizations

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Scientific Literature

Articles from the PubMed Database

Research articles describe the outcome of a single study. They are the published results of original research.
The terms "Sjogren-Larsson syndrome" returned 42 free, full-text research articles on human participants. First 3 results:

Segmentation of Retinal Layers in Sjögren-Larsson Syndrome.
 

Author(s): Loren S Jack, Christy Benson, Mohammad A Sadiq, William B Rizzo, Eyal Margalit

Journal: Ophthalmology. 2015 Aug;122(8):1730-2.

 

Last Updated: 27 Jul 2015

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A gatekeeper helix determines the substrate specificity of Sjögren-Larsson Syndrome enzyme fatty aldehyde dehydrogenase.
 

Author(s): Markus A Keller, Ulrich Zander, Julian E Fuchs, Christoph Kreutz, Katrin Watschinger, Thomas Mueller, Georg Golderer, Klaus R Liedl, Markus Ralser, Bernhard Kräutler, Ernst R Werner, Jose A Marquez

Journal:

 

Mutations in the gene coding for membrane-bound fatty aldehyde dehydrogenase (FALDH) lead to toxic accumulation of lipid species and development of the Sjögren-Larsson Syndrome (SLS), a rare disorder characterized by skin defects and mental retardation. Here, we present the crystallographic ...

Last Updated: 22 Jul 2014

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Sporadic VACTERL association in a Japanese family with Sjögren-Larsson syndrome.
 

Author(s): Takuya Takeichi, Kazumitsu Sugiura, Hidee Arai, Ken Ishii, Michihiro Kono, Masashi Akiyama

Journal: Acta Derm. Venereol.. 2013 Sep;93(5):579-80.

 

Last Updated: 4 Sep 2013

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Reviews from the PubMed Database

Review articles summarize what is currently known about a disease. They discuss research previously published by others.
The terms "Sjogren-Larsson syndrome" returned 4 free, full-text review articles on human participants. First 3 results:

Sjögren-Larsson syndrome.
 

Author(s): Neil Gordon

Journal: Dev Med Child Neurol. 2007 Feb;49(2):152-4.

 

Sjögren-Larsson syndrome is a recessively inherited syndrome caused by deficiency of fatty aldehyde dehydrogenase. The most common symptoms and signs are described, especially ichthyosis, spastic diplegia, and severe learning difficulties; but also other less frequent ones. Special ...

Last Updated: 26 Jan 2007

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Sjögren-Larsson syndrome: molecular genetics and biochemical pathogenesis of fatty aldehyde dehydrogenase deficiency.
 

Author(s): William B Rizzo

Journal: Mol. Genet. Metab.. 2007 Jan;90(1):1-9.

 

Sjögren-Larsson syndrome (SLS) is an inherited neurocutaneous disorder caused by mutations in the ALDH3A2 gene that encodes fatty aldehyde dehydrogenase (FALDH), an enzyme that catalyzes the oxidation of fatty aldehyde to fatty acid. Affected patients display ichthyosis, mental retardation ...

Last Updated: 12 Dec 2006

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Clinical, biochemical and molecular genetic characteristics of 19 patients with the Sjögren-Larsson syndrome.
 

Author(s): M A Willemsen, L IJlst, P M Steijlen, J J Rotteveel, J G de Jong, P H van Domburg, E Mayatepek, F J Gabreëls, R J Wanders

Journal: Brain. 2001 Jul;124(Pt 7):1426-37.

 

Sjögren-Larsson syndrome (SLS) is an autosomal recessively inherited neurocutaneous disorder caused by a deficiency of the microsomal enzyme fatty aldehyde dehydrogenase (FALDH). We report the clinical characteristics and the results of molecular studies in 19 SLS patients. Patients ...

Last Updated: 15 Jun 2001

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Symptoms, Diagnosis, and Treatment

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Clinical Trial Information This information is provided by ClinicalTrials.gov

Sjogren-Larsson Syndrome: Natural History, Clinical Variation and Evaluation of Biochemical Markers
 

Status: Recruiting

Condition Summary: Sjogren-Larsson Syndrome (SLS)

 

Last Updated: 29 Oct 2013

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