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Measurement of dihydroxyacetone‐phosphate acyltransferase (DHAPAT) in chorionic villous samples, blood cells and cultured cells
Author(s) -
Wanders R. J. A.,
Ofman R.,
Romeijn G. J.,
Schutgens R. B. H.,
Mooijer P. A. W.,
Dekker C.,
Bosch H.
Publication year - 1995
Publication title -
journal of inherited metabolic disease
Language(s) - English
Resource type - Journals
SCImago Journal Rank - 1.462
H-Index - 102
eISSN - 1573-2665
pISSN - 0141-8955
DOI - 10.1007/bf00711432
Subject(s) - dihydroxyacetone phosphate , acyltransferase , dihydroxyacetone , biochemistry , biology , microbiology and biotechnology , enzyme , chemistry , glycerol
Summary 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.