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Updated: Jun 26, 2026

Ultrasonographic Evaluation of Salivary Glands for Sjogren's Syndrome: Diagnostic and Monitoring Insights
Published on: October 13, 2023
Enzymatic diagnosis of Sjögren-Larsson syndrome using electrospray ionization mass spectrometry
Robert-Jan Sanders1, Rob Ofman, Conny Dekker
1Department of Genetic Metabolic Diseases, University of Amsterdam, Academic Medical Center, Amsterdam, The Netherlands.
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.
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