新生儿精氨琥珀酸尿症，脑和肾正常，但肝脏精氨琥珀酸裂解酶活性缺失。
Neonatal argininosuccinic aciduria with normal brain and kidney but absent liver argininosuccinate lyase activity.
作者信息
Glick N R, Snodgrass P J, Schafer I A
出版信息
Am J Hum Genet. 1976 Jan;28(1):22-30.
Abstract
An infant is described who died at 6 days of age with hyperammonemia and argininosuccinic acid in the urine. Argininosuccinic acid lyase (AL) was absent in liver, decreased in red blood cells, but normal in brain and kidney. The instability of AL in frozen stored tissues accounts for previous reports of deficient AL activity in the brain and kidney of neonates with this disease. The variation of AL activity in the tissues of this patient demonstrates that more than one gene locus either codes for the structure of this enzyme or regulates its biosynthesis in different organs.
摘要
本文描述了一名6日龄死亡的婴儿，伴有高氨血症且尿液中含有精氨琥珀酸。肝脏中缺乏精氨琥珀酸裂解酶（AL），红细胞中该酶含量降低，但脑和肾中该酶含量正常。冷冻保存组织中AL的不稳定性解释了先前关于患有此病的新生儿脑和肾中AL活性缺乏的报道。该患者组织中AL活性的变化表明，不止一个基因位点要么编码该酶的结构，要么在不同器官中调节其生物合成。
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