Rhizomelic chondrodysplasia punctata with isolated DHAP-AT deficiency.
Rhizomelic chondrodysplasia punctata with isolated DHAP-AT deficiency.
复制标题
点状根茎软骨发育不良伴孤立的 DHAP-AT 缺乏。
DOI：
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发表时间：
1993
影响因子：
5.2
通讯作者：
R. Schutgens
中科院分区：
文献类型：
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作者：
D. Barr;J. Kirk;M. al Howasi;R. Wanders;R. Schutgens
一名具有典型根茎型点状软骨发育不良特征表型的婴儿被发现存在单独的过氧化物酶体酶酰基辅酶A二羟丙酮磷酸酰基转移酶（DHAP-AT）缺陷。发现所有其他测量的过氧化物酶体功能均正常。先前在另一份病例报告中描述过，这证实了另一种独特形式的过氧化物酶体疾病的存在，其生化特征仅在于缩醛磷脂从头生物合成的缺陷。
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.