TY - JOUR
T1 - Enzymatic diagnosis of Sjögren-Larsson syndrome using electrospray ionization mass spectrometry
AU - Sanders, Robert-Jan
AU - Ofman, Rob
AU - Dekker, Conny
AU - Kemp, Stephan
AU - Wanders, Ronald J. A.
PY - 2009
Y1 - 2009
N2 - 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
AB - 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
U2 - https://doi.org/10.1016/j.jchromb.2008.12.040
DO - https://doi.org/10.1016/j.jchromb.2008.12.040
M3 - Article
C2 - 19124283
SN - 1570-0232
VL - 877
SP - 451
EP - 455
JO - Journal of chromatography. B, Analytical technologies in the biomedical and life sciences
JF - Journal of chromatography. B, Analytical technologies in the biomedical and life sciences
IS - 4
ER -