Rhizomelic chondrodysplasia punctata with isolated DHAP-AT deficiency |
| |
Authors: | DG Barr JM Kirk M al Howasi RJ Wanders RB Schutgens |
| |
Institution: | Royal Hospital for Sick Children, Edinburgh. |
| |
Abstract: | An infant with the characteristic phenotype of classical rhizomelic chondrodysplasia punctata was found to have an isolated deficiency of the peroxisomal enzyme acyl CoA dihydroxyacetone phosphate acyltransferase (DHAP-AT). All other peroxisomal functions measured were found to be normal. Previously described in one other case report, this confirms the existence of another distinct form of peroxisomal disorder characterised biochemically by a deficiency in de novo plasmalogen biosynthesis only. |
| |
Keywords: | |
本文献已被 PubMed 等数据库收录! |