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.

• Authors: J T Van Crugten, B Paton, A Poulos
• Journal: Journal of inherited metabolic disease (J Inherit Metab Dis) Vol. 9 Issue 2 Pg. 163-8 ( 1986) ISSN: 0141-8955 [Print] United States
• PMID: 2427794 (Publication Type: Journal Article)

Chemical References

• Acyltransferases
• glycerone-phosphate O-acyltransferase

Topics

• Acyltransferases (deficiency)
• Cells, Cultured
• Fibroblasts (enzymology)
• Humans
• Refsum Disease (enzymology)