title: Isolated dihydroxyacetonephosphate acyltransferase deficiency presenting with developmental delay.
abstract: A boy aged 21 months who was being investigated for developmental delay and failure to thrive was found to have punctate epiphyseal calcification. He had no evidence of rhizomelic shortening of the limbs or cataracts. Investigation revealed defective plasmalogen synthesis due to isolated deficiency of dihydroxyacetonephosphate acyltransferase (DHAP-AT). The parents were consanguineous and a sister was similarly affected, suggesting autosomal recessive inheritance. Hitherto, recessively inherited isolated DHAP-AT deficiency has only been described in patients with a phenotype similar to that of rhizomelic chondrodysplasia punctata. This report indicates that the same biochemical disorder can be associated with a less severe phenotype.
authors.affiliation: Hospital for Sick Children, London, UK.
authors.forename: P T
authors.initials: PT
authors.lastname: Clayton
authors.forename: S
authors.initials: S
authors.lastname: Eckhardt
authors.forename: J
authors.initials: J
authors.lastname: Wilson
authors.forename: C M
authors.initials: CM
authors.lastname: Hall
authors.forename: Y
authors.initials: Y
authors.lastname: Yousuf
authors.forename: R J
authors.initials: RJ
authors.lastname: Wanders
authors.forename: R B
authors.initials: RB
authors.lastname: Schutgens
mesh_terms: D000217:Acyltransferases / Q000172:deficiency*; D002658:Developmental Disabilities / Q000209:etiology*; D006801:Humans; D007223:Infant; D008297:Male
chemical_list: D000217:Acyltransferases; C020051:glycerone-phosphate O-acyltransferase