title: Rhizomelic chondrodysplasia punctata with isolated DHAP-AT deficiency.
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.
authors: Royal Hospital for Sick Children, Edinburgh.
authors: D G
authors: DG
authors: Barr
authors: J M
authors: JM
authors: Kirk
authors: M
authors: M
authors: al Howasi
authors: R J
authors: RJ
authors: Wanders
authors: R B
authors: RB
authors: Schutgens
mesh_terms: D000217:Acyltransferases / Q000172:deficiency*; D002806:Chondrodysplasia Punctata / Q000201:enzymology*; D005347:Fibroblasts / Q000378:metabolism; D006801:Humans; D007231:Infant, Newborn; D008297:Male; D008830:Microbodies / Q000378:metabolism; D010641:Phenotype; D010955:Plasmalogens / Q000096:biosynthesis
chemical_list: D010955:Plasmalogens; D000217:Acyltransferases; C020051:glycerone-phosphate O-acyltransferase