Original articleSjögren-Larsson syndrome: Inherited defect in the fatty alcohol cycle*
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Cited by (66)
1-O-Alkylglycerol accumulation reveals abnormal ether glycerolipid metabolism in Sjögren-Larsson syndrome
2020, Molecular Genetics and MetabolismCitation Excerpt :The AGs were quantitated using C17:0-AG as internal standard and expressed as μg/ml plasma or packed RBCs. RBC lipid extracts were transmethylated with 1 M methanolic-HCl for determination of DMA composition by GC–MS [11]. Data were expressed as the ratio of 16:0-DMA and C18:0-DMA to their corresponding fatty acid methyl esters.
Large contiguous gene deletions in Sjögren-Larsson syndrome
2011, Molecular Genetics and MetabolismAn examination of pentafluorobenzoyl derivatization strategies for the analysis of fatty alcohols using gas chromatography/electron capture negative ion chemical ionization-mass spectrometry
2011, Journal of Chromatography B: Analytical Technologies in the Biomedical and Life SciencesCitation Excerpt :Plasma levels of FOH in biological samples are typically expressed as a percentage of total FOH. In humans, plasma FOH levels range from 10 to 400 ng/mL, with the higher levels observed in humans with Sjögren–Larsson syndrome [6,8]. For example, in unaffected humans 16:0- and 18:0-OH plasma levels are 10 and 7 ng/mL, respectively [6].
Enzymatic diagnosis of Sjögren-Larsson syndrome using electrospray ionization mass spectrometry
2009, Journal of Chromatography B: Analytical Technologies in the Biomedical and Life SciencesAbnormal fatty alcohol metabolism in cultured keratinocytes from patients with Sjögren-Larsson syndrome
2008, Journal of Lipid ResearchCitation Excerpt :Unlike the neutral lipids, convincing increases were not seen in the plasmalogen phospholipid levels in keratinocytes, as estimated by phospholipid DMA composition. Previous studies have shown that DMA levels in erythrocytes from SLS patients are either normal or mildly increased (21). FAO deficiency in SLS keratinocytes resulted in a large increase in fatty alcohol content similar to that seen in SLS fibroblasts.
Fatty aldehyde dehydrogenase: Genomic structure, expression and mutation analysis in Sjögren-Larsson syndrome
2001, Chemico-Biological InteractionsCitation Excerpt :The first insight into this role arose from finding abnormal fatty alcohol metabolism in patients’ cells [9,42]. Fatty alcohols that are 16- to 18-carbons long accumulate in cultured cells and plasma from SLS patients, which implicates FALDH in the oxidation of long-chain aliphatic alcohol to fatty acid [43–45]. This metabolic pathway is catalyzed by fatty alcohol:NAD+ oxidoreductase, a complex microsomal enzyme that requires fatty alcohol dehydrogenase along with FALDH as enzymatic components [46,47].
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Supported by Basil O'Connor Starter Research Grant No. 5-476, March of Dimes; National Institutes of Health grant No. DK33914, and a grant from the Medical College of Virginia Children's Miracle Network Telethon.