Wanders R J, Ofman R, Romeijn G J, Schutgens R B, Mooijer P A, Dekker C, van den Bosch H
University Hospital Amsterdam, Academic Medical Centre, Department of Pediatrics, The Netherlands.
J Inherit Metab Dis. 1995;18 Suppl 1:90-100. doi: 10.1007/BF00711432.
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.
磷酸二羟丙酮酰基转移酶（DHAPAT）是一种过氧化物酶体酶，催化醚磷脂生物合成的第一步。患有多种过氧化物酶体疾病的患者细胞中DHAPAT缺乏。准确测量该酶的活性非常重要，特别是因为它是过氧化物酶体生物发生障碍、肢根型点状软骨发育不良和DHAPAT缺乏症产前诊断的核心参数。我们描述了一种简单而准确的检测方法，可在绒毛膜绒毛样本、血细胞、培养的皮肤成纤维细胞、培养的绒毛膜绒毛成纤维细胞和培养的羊水中可靠地测量DHAPAT的活性。
