MEASUREMENT OF DIHYDROXYACETONE-PHOSPHATE ACYLTRANSFERASE (DHAPAT) INCHORIONIC VILLOUS SAMPLES, BLOOD-CELLS AND CULTURED-CELLS

Dihydroxyacetone-phosphate acyltransferase (DHAPAT) is a peroxisomal e nzyme catalysing the first step in ether-phospholipid biosynthesis. DH APAT is deficient in cells from patients suffering from a variety of p eroxisomal disorders. Accurate measurement of the activity of this enz yme 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 describ e a straightforward and accurate assay allowing the activity of DHAPAT to be measured reliably in chorionic villus samples, blood cells, cul tured skin fibroblasts, cultured chorionic villus fibroblasts and cult ured amniocytes.