一例罕见低龄发病的高精氨酸血症病例。
A Case of Hyperargininaemia Presenting at Unusually Low Age.
作者信息
Lal Vanita, Khera Daisy, Gupta Garima, Singh Kuldeep, Sharma Praveen
机构信息
Associate Professor, Department of Biochemistry, All India Institute of Medical Sciences, Jodhpur, Rajasthan, India.
Associate Professor, Department of Paediatrics, All India Institute of Medical Sciences, Jodhpur, Rajasthan, India.
出版信息
J Clin Diagn Res. 2017 Jul;11(7):BD01-BD03. doi: 10.7860/JCDR/2017/29270.10263. Epub 2017 Jul 1.
Arginase or gene deficiency is a Type V Urea Cycle Disorder (UCD) (catalysing the fifth reaction of urea cycle), associated with hyperammonaemia. Here, we discuss a rare case of a 13-month-old female, having Severe Acute Malnutrition (SAM) and failure to thrive, with serial high plasma ammonia, normal plasma lactate with high arginine and glutamine levels on Amino Acid Assay (AAA) which was performed on 1220 Agilent HPLC. She was admitted for about a month and eventually succumbed to her ailment after a month of discharge.
精氨酸酶或基因缺乏是一种Ⅴ型尿素循环障碍（UCD）（催化尿素循环的第五步反应），与高氨血症相关。在此，我们讨论一例罕见病例，一名13个月大的女性，患有重度急性营养不良（SAM）且发育不良，多次出现血浆氨水平升高，血浆乳酸正常，氨基酸分析（AAA）显示精氨酸和谷氨酰胺水平升高，该分析在1220安捷伦高效液相色谱仪上进行。她住院约一个月，出院一个月后最终因病去世。
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