Clayton P T, Eckhardt S, Wilson J, Hall C M, Yousuf Y, Wanders R J, Schutgens R B
Hospital for Sick Children, London, UK.
J Inherit Metab Dis. 1994;17(5):533-40. doi: 10.1007/BF00711587.
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.
一名21个月大的男孩因发育迟缓及生长发育不良接受检查，发现有骨骺点状钙化。他没有肢体近端短小或白内障的迹象。检查发现，由于二羟基丙酮磷酸酰基转移酶（DHAP-AT）单独缺乏导致缩醛磷脂合成缺陷。父母为近亲结婚，其妹妹也有类似症状，提示为常染色体隐性遗传。迄今为止，隐性遗传的孤立性DHAP-AT缺乏仅在与点状骨骺发育异常近端型表型相似的患者中被描述过。本报告表明，相同的生化紊乱可能与较轻的表型相关。
