title: Partial deficiency of dihydroxyacetone phosphate acyltransferase activity in both classical and infantile Refsum's diseases.
abstract: We measured the activity of dihydroxyacetone phosphate acyltransferase (DHAP-AT) in fibroblasts of controls and patients with classical Refsum's disease (RD), infantile Refsum's disease (IRD) and Zellweger's syndrome (ZS). We confirmed that DHAP-AT activity is severely reduced in ZS fibroblasts and amniocytes. We also demonstrated a partial deficiency of DHAP-AT activity in RD and IRD fibroblast cultures. These diseases are probably distinct but related entities in which peroxisomal biogenesis is affected to varying degrees.
mesh_terms: D000217:Acyltransferases / Q000172:deficiency*; D002478:Cells, Cultured; D005347:Fibroblasts / Q000201:enzymology; D006801:Humans; D012035:Refsum Disease / Q000201:enzymology*
chemical_list: D000217:Acyltransferases; C020051:glycerone-phosphate O-acyltransferase