Işıkay Sedat, Yaman Ayhan, Ceylaner Serdar
Division of Pediatric Neurology, Department of Pediatrics, Hasan Kalyoncu University, Faculty of Medicine, Gaziantep, Turkey.
Division of Pediatric Intensive Care Unit, Department of Pediatrics, Gaziantep University Faculty of Medicine, Gaziantep, Turkey.
Turk J Pediatr. 2017;59(3):315-317. doi: 10.24953/turkjped.2017.03.013.
Işıkay S, Yaman A, Ceylaner S. An infant with glutaric aciduria type IIc diagnosed with a novel mutation. Turk J Pediatr 2017; 59: 315-317. Glutaric aciduria type II is a rare inborn error of metabolism. The clinical picture is highly variable with symptoms ranging from acute metabolic decompensations to chronic, mainly muscular problems or even asymptomatic cases. Herein we described a 7-month-old female patient presented with respiratory failure and diagnosed with glutaric aciduria type II via whole exome sequencing that exhibited one known and a novel mutation. Her blood and urine analyses were all normal. After the diagnosis, dramatic and sustained improvement on a low-fat, low-protein, and high-carbohydrate diet supplemented with oral riboflavin and carnitine was determined. In especially hypotonic patients with unknown etiologies, though the blood and urine analyses are normal, glutaric aciduria type II should also be kept in mind and genetic tests may be required for the diagnosis.
伊希凯·S、亚曼·A、杰伊拉内尔·S。一名诊断为新型突变的IIc型戊二酸尿症婴儿。《土耳其儿科学杂志》2017年；59: 315 - 317。II型戊二酸尿症是一种罕见的先天性代谢缺陷。临床表现高度可变，症状从急性代谢失代偿到慢性，主要是肌肉问题，甚至有无症状病例。在此，我们描述了一名7个月大的女性患者，因呼吸衰竭就诊，通过全外显子组测序诊断为II型戊二酸尿症，该患者显示出一个已知突变和一个新型突变。她的血液和尿液分析均正常。诊断后，确定在补充口服核黄素和肉碱的低脂、低蛋白和高碳水化合物饮食下有显著且持续的改善。对于病因不明的特别是低渗患者，尽管血液和尿液分析正常，也应考虑II型戊二酸尿症，诊断可能需要进行基因检测。
