BACKGROUND: Sjögren-Larsson syndrome is a metabolic disorder characterized by accumulation of long-chain fatty alcohols in plasma of patients due to mutations in the ALDH3A2 gene, that codes for a microsomal fatty aldehyde dehydrogenase (FALDH). Recent studies have demonstrated that FALDH is involved in the last step of the conversion of 22-hydroxy-C22:0 into the dicarboxylic acid of C22:0 (C22:0-DCA). METHODS: FALDH activity was determined by incubating fibroblast homogenates with omega-hydroxy-C22:0 in the presence of NAD(+). Electrospray ionization mass spectrometry (ESI-MS) was used to quantify the amounts of C22:0-DCA produced. RESULTS: All SLS patients were deficient in C22:0-DCA productions with activities ranging from 3.2-26.3% of mean control. CONCLUSIONS: The new assay described in this paper has substantial advantages over previous assays, and allows for the easy, reliable and rapid diagnosis of SLS.
BACKGROUND: Sjögren-Larsson syndrome is a metabolic disorder characterized by accumulation of long-chain fatty alcohols in plasma of patients due to mutations in the ALDH3A2 gene, that codes for a microsomal fatty aldehyde dehydrogenase (FALDH). Recent studies have demonstrated that FALDH is involved in the last step of the conversion of 22-hydroxy-C22:0 into the dicarboxylic acid of C22:0 (C22:0-DCA). METHODS:FALDH activity was determined by incubating fibroblast homogenates with omega-hydroxy-C22:0 in the presence of NAD(+). Electrospray ionization mass spectrometry (ESI-MS) was used to quantify the amounts of C22:0-DCA produced. RESULTS: All SLSpatients were deficient in C22:0-DCA productions with activities ranging from 3.2-26.3% of mean control. CONCLUSIONS: The new assay described in this paper has substantial advantages over previous assays, and allows for the easy, reliable and rapid diagnosis of SLS.
Authors: Joris Fuijkschot; Thomas Theelen; Marieke M B Seyger; Marinette van der Graaf; Imelda J M de Groot; Ron A Wevers; Ronald J A Wanders; Hans R Waterham; Michèl A A P Willemsen Journal: J Inherit Metab Dis Date: 2012-07-26 Impact factor: 4.982
Authors: Markus A Keller; Katrin Watschinger; Karsten Lange; Georg Golderer; Gabriele Werner-Felmayer; Albin Hermetter; Ronald J A Wanders; Ernst R Werner Journal: J Lipid Res Date: 2012-04-16 Impact factor: 5.922
Authors: Markus A Keller; Katrin Watschinger; Georg Golderer; Manuel Maglione; Bettina Sarg; Herbert H Lindner; Gabriele Werner-Felmayer; Alessandro Terrinoni; Ronald J A Wanders; Ernst R Werner Journal: J Lipid Res Date: 2009-11-05 Impact factor: 5.922