Organic Acid Analysis on Urine Samples Obtaine3d from Dried Filter Paper in Newborns : Development of Screening Method for Organic Aciduria in Newborns |
Eun Ha Lee1, Si Houn Hahn2 |
1Department of Pediatrics, School of Medicine, Ajou University, Suwon, Korea 2Department of Pediatrics, School of Medicine, Ajou University, Suwon, Korea |
신생아에서 여과지를 이용한 소변의 유기산분석 : 선천성 대사이상질환의 신생아 선별검사법 개발 |
이은하1, 한시훈2 |
1아주대학교 의과대학 소아과학교실 2아주대학교 의과대학 소아과학교실 |
Correspondence:
Si Houn Hahn, Email: omik@madang.ajou.ac.kr |
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Abstract |
Purpose : Neonatal screening for inherited metabolic disease is aimed at identifying affected infants early, thus permitting medical intervention to prevent or minimize the effect of the disease. However, organic aciduria, most of which causes severe disease and mental retardation, is not yet screened routinely because of the difficulty of tests, sample collection, and expenditure of time and financial resources. This study was designed to develop a screening method for the detection of multiple organic aciduria and neuroblastoma, using dried urine filter paper.
Methods : The standard markers used for screening of organic aciduria were placed on the filter paper and analysed with the modified organic acid analysis method. The extraction efficiency and stability of standard markers were tested for the purpose of adequacy as screening markers, and the method described herein was evaluated by analyzing filter paper samples obtained from both normal newborns and patients with known organic aciduria.
Results : The standard markers in the filter paper left in the room temperature over a period of 5 days were still stable without significant degradation. The level of specific organic acids obtained from known organic aciduria patients were easily detectable-enough to make the diagnosis.
Conclusion : The filter papers soaked with urines obtained from newborns or patients with suspicious metabolic diseases are adequate for screening of organic acidurias and neuroblastoma. Sample delivery to the laboratory can be handled more easily with this method and even newborn screening could be applied in the future. |
Key Words:
Dried urine filter paper, Organic aciduria, Newborn screening |
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