Sperl W, Lehnert W
Univ. Kinderklinik Innsbruck.
Klin Padiatr. 1990 Sep-Oct;202(5):334-9. doi: 10.1055/s-2007-1025541.
Defects in the branched chain amino acid metabolism are the most common forms of organic aciduria. Two thirds of the cases manifest themselves during the neonatal period, most of them with an acute onset. Prompt diagnosis of organic acidurias is a task of the pediatrician and the neonatologist and depends on their early identification of children with suspect clinical symptoms. Between 1984 and 1987 9 patients presented with an organic aciduria at the Pediatric Department of the University of Innsbruck, 7 of them were neonates. 4 of these 7 children had a defect in the branched chain amino acid metabolism, 3 with propionic acidemia, one with maple syrup urine disease. The remaining 3 children presented with lactic aciduria. In all our patients diagnosis was performed by combined gas chromatography and mass spectrometry of spontaneous urine samples. Diagnostic procedures and therapeutic measures applied in the acute metabolic crisis are presented. Continuous arteriovenous hemofiltration has been found to be an efficient method for eliminating toxic metabolites in intractable metabolic acidosis.
支链氨基酸代谢缺陷是有机酸尿症最常见的形式。三分之二的病例在新生儿期出现症状,大多数起病急。有机酸尿症的及时诊断是儿科医生和新生儿科医生的任务,这取决于他们对有可疑临床症状儿童的早期识别。1984年至1987年期间,因斯布鲁克大学儿科有9例有机酸尿症患者,其中7例为新生儿。这7名儿童中有4例存在支链氨基酸代谢缺陷,3例为丙酸血症,1例为枫糖尿症。其余3名儿童表现为乳酸性尿症。我们所有患者的诊断均通过对自发尿液样本进行气相色谱和质谱联用分析来完成。本文介绍了在急性代谢危机中应用的诊断程序和治疗措施。连续动静脉血液滤过已被证明是消除难治性代谢性酸中毒中有毒代谢物的有效方法。