Document Detail


A novel assay for the prenatal diagnosis of Sjögren-Larsson syndrome.
MedLine Citation:
PMID:  16435189     Owner:  NLM     Status:  MEDLINE    
Abstract/OtherAbstract:
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.
Authors:
D M van den Brink; J M van Miert; R J A Wanders
Related Documents :
903829 - Some carbohydrates found in pollen and pollen substitutes are toxic to honey bees.
9095099 - Increased membrane ratios of metabolite to precursor fatty acid in essential hypertension.
666999 - The effect of dihomo-gamma-linolenic acid (20: 3,n-6) on the composition of phospholipi...
98859 - Essential fatty acid deficiency in total parenteral nutrition: time course of developme...
9403649 - Essential fatty acid status in children with cholestasis, in relation to serum bilirubi...
18023279 - Pparalpha-dependent induction of the energy homeostasis-regulating nuclear receptor nr1...
9379909 - Comparative genotoxicity of halogenated acetic acids found in drinking water.
7602299 - Definitive identification of an exceptionally high methanol concentration in an intoxic...
1536869 - Biosynthesis of cholic acid accelerated by diabetes: its mechanism and effect of vanada...
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    
Affiliation:
Academic Medical Centre, Laboratory for Genetic Metabolic Diseases, Department of Clinical Chemistry, Emma Children's Hospital, University of Amsterdam, Amsterdam, The Netherlands.
Export Citation:
APA/MLA Format     Download EndNote     Download BibTex
MeSH Terms
Descriptor/Qualifier:
Alcohol Oxidoreductases / metabolism
Aldehyde Oxidoreductases / deficiency
Biopsy
Cells, Cultured
Chorionic Villi / metabolism
Fibroblasts / metabolism
Gas Chromatography-Mass Spectrometry
Humans
Models, Chemical
Phytanic Acid / analogs & derivatives,  chemistry
Phytol / analysis,  chemistry
Prenatal Diagnosis / methods*
Sjogren-Larsson Syndrome / diagnosis*,  metabolism*
Time Factors
Chemical
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 1.2.1.48/long-chain-aldehyde dehydrogenase

From MEDLINE®/PubMed®, a database of the U.S. National Library of Medicine


Previous Document:  Analysis of polyols in urine by liquid chromatography-tandem mass spectrometry: a useful tool for re...
Next Document:  Effect of copper and diethyldithiocarbamate combination therapy on the macular mouse, an animal mode...