Document Detail

A novel assay for the prenatal diagnosis of Sjögren-Larsson syndrome.
MedLine Citation:
PMID:  16435189     Owner:  NLM     Status:  MEDLINE    
Sjögren-Larsson syndrome (SLS) is a metabolic disorder characterized by ichthyosis, mental retardation and spastic diplegia or tetraplegia. The biochemical defect has been identified as a deficiency of fatty aldehyde dehydrogenase (FALDH), which is part of an enzyme complex that converts fatty alcohols into fatty acids. Making use of the finding that FALDH is also involved in the degradation of phytol, we set up an enzymatic assay for the prenatal diagnosis of SLS in cultured chorionic villus fibroblasts (CVF) based on a deficiency in the conversion of phytol to phytenic acid. FALDH activity was assessed by incubating fibroblast homogenates with phytol in the presence of NAD+, followed by hexane extraction of the samples and quantification of phytenic acid production by gas chromatography-mass spectrometry (GC-MS). FALDH activity could be detected in cultured CVF cells derived from control fetuses and the activity was found to be markedly deficient in cultured CVF cells derived from an affected SLS fetus. The new assay described in this paper has advantages over previous assays and we conclude that it may well contribute to the prenatal detection of SLS.
D M van den Brink; J M van Miert; R J A Wanders
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Publication Detail:
Type:  Journal Article; Research Support, Non-U.S. Gov't    
Journal Detail:
Title:  Journal of inherited metabolic disease     Volume:  28     ISSN:  0141-8955     ISO Abbreviation:  J. Inherit. Metab. Dis.     Publication Date:  2005  
Date Detail:
Created Date:  2006-01-25     Completed Date:  2006-07-05     Revised Date:  2007-03-21    
Medline Journal Info:
Nlm Unique ID:  7910918     Medline TA:  J Inherit Metab Dis     Country:  Netherlands    
Other Details:
Languages:  eng     Pagination:  965-9     Citation Subset:  IM    
Academic Medical Centre, Laboratory for Genetic Metabolic Diseases, Department of Clinical Chemistry, Emma Children's Hospital, University of Amsterdam, Amsterdam, The Netherlands.
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MeSH Terms
Alcohol Oxidoreductases / metabolism
Aldehyde Oxidoreductases / deficiency
Cells, Cultured
Chorionic Villi / metabolism
Fibroblasts / metabolism
Gas Chromatography-Mass Spectrometry
Models, Chemical
Phytanic Acid / analogs & derivatives,  chemistry
Phytol / analysis,  chemistry
Prenatal Diagnosis / methods*
Sjogren-Larsson Syndrome / diagnosis*,  metabolism*
Time Factors
Reg. No./Substance:
14721-66-5/Phytanic Acid; 150-86-7/Phytol; 3653-46-1/phytenic acid; EC 1.1.-/Alcohol Oxidoreductases; EC 1.2.-/Aldehyde Oxidoreductases; EC dehydrogenase

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