Statter M, Ben-Zvi A, Shina A, Schein R, Russell A
Helv Paediatr Acta. 1976 Aug;31(2):173-82.
Spasticity and severe psychomotor retardation in a 2-year-old girl, apparently in expression of chronic progressive encephalopathy, was found in association with prolinuria, hydroxyprolinuria and hyperglycinuria. The pattern and levels of these amino acids in plasma proved to be normal, however, as was their intestinal absorption as well as their concentration in cerebrospinal fluid. The proband appears to be homozygous for iminoglycinuria with an apparent inborn defect of the renal tubular transport system specific to these amino acids. An isolated hyperglycinuria, however, was traced in several obligate heterozygotes in this family. The possibility of a more direct causative link between this anomaly and her clinical manifestations is discussed. Where instances of iminoglycinuria occur in association with cerebral pathology of this type, an analogous impairment of a correspondingly specific cerebral amino acid transport system is postulated.
在一名2岁女童中发现痉挛和严重精神运动发育迟缓，显然是慢性进行性脑病的表现，同时伴有脯氨酸尿症、羟脯氨酸尿症和甘氨酸尿症。然而，血浆中这些氨基酸的模式和水平被证明是正常的，它们的肠道吸收以及在脑脊液中的浓度也是正常的。先证者似乎是亚氨基甘氨酸尿症的纯合子，具有明显的这些氨基酸特异性肾小管转运系统的先天性缺陷。然而，在这个家族的几个 obligate 杂合子中发现了孤立的甘氨酸尿症。讨论了这种异常与其临床表现之间更直接因果关系的可能性。当亚氨基甘氨酸尿症与这种类型的脑部病变相关发生时，推测相应特异性脑氨基酸转运系统存在类似损伤。
