Barr D G, Kirk J M, al Howasi M, Wanders R J, Schutgens R B
Royal Hospital for Sick Children, Edinburgh.
Arch Dis Child. 1993 Mar;68(3):415-7. doi: 10.1136/adc.68.3.415.
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.
一名具有典型肢根型点状软骨发育不良特征性表型的婴儿，被发现存在过氧化物酶体酶酰基辅酶A二羟基丙酮磷酸酰基转移酶（DHAP-AT）的孤立性缺乏。所检测的所有其他过氧化物酶体功能均正常。此前在另一例病例报告中有所描述，这证实了另一种独特形式的过氧化物酶体疾病的存在，其生化特征仅为从头合成缩醛磷脂存在缺陷。
