title: Measurement of dihydroxyacetone-phosphate acyltransferase (DHAPAT) in chorionic villous samples, blood cells and cultured cells.
abstract: Dihydroxyacetone-phosphate acyltransferase (DHAPAT) is a peroxisomal enzyme catalysing the first step in ether-phospholipid biosynthesis. DHAPAT is deficient in cells from patients suffering from a variety of peroxisomal disorders. Accurate measurement of the activity of this enzyme is of great importance, especially since it is a central parameter in the prenatal diagnosis of the disorders of peroxisome biogenesis, rhizomelic chondrodysplasia punctata and DHAPAT-deficiency. We describe a straightforward and accurate assay allowing the activity of DHAPAT to be measured reliably in chorionic villus samples, blood cells, cultured skin fibroblasts, cultured chorionic villus fibroblasts and cultured amniocytes.
authors.affiliation: University Hospital Amsterdam, Academic Medical Centre, Department of Pediatrics, The Netherlands.
authors.forename: R J
authors.initials: RJ
authors.lastname: Wanders
authors.forename: R
authors.initials: R
authors.lastname: Ofman
authors.forename: G J
authors.initials: GJ
authors.lastname: Romeijn
authors.forename: R B
authors.initials: RB
authors.lastname: Schutgens
authors.forename: P A
authors.initials: PA
authors.lastname: Mooijer
authors.forename: C
authors.initials: C
authors.lastname: Dekker
authors.forename: H
authors.initials: H
authors.lastname: van den Bosch
mesh_terms: D000217:Acyltransferases / Q000032:analysis* / Q000097:blood / Q000172:deficiency; D000653:Amniotic Fluid / Q000201:enzymology; D001773:Blood Cells / Q000201:enzymology; D002478:Cells, Cultured; D002824:Chorionic Villi / Q000737:chemistry*; D015193:Chorionic Villi Sampling; D005260:Female; D005347:Fibroblasts; D006801:Humans; D007202:Indicators and Reagents; D011247:Pregnancy; D012996:Solutions
chemical_list: D007202:Indicators and Reagents; D012996:Solutions; D000217:Acyltransferases; C020051:glycerone-phosphate O-acyltransferase