Partial deficiency of dihydroxyacetone phosphate acyltransferase activity in both classical and infantile Refsum's diseases

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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.