https://scholars.lib.ntu.edu.tw/handle/123456789/525987
標題: | Early detection of glutaric aciduria type I by newborn screening in Taiwan | 作者: | Hsieh C.-T. WUH-LIANG HWU Huang Y.-T. Huang A.-C. Wang S.-F. Hu M.-H. YIN-HSIU CHIEN |
公開日期: | 2008 | 出版社: | Scientific Communications International Ltd | 卷: | 107 | 期: | 2 | 起(迄)頁: | 139-144 | 來源出版物: | Journal of the Formosan Medical Association | 摘要: | Background/Purpose: Glutaric aciduria type 1 (GA1) is an inborn error of lysine and tryptophan metabolism. There is a lack of initial diagnostic signs of the disease, but late treatment often results in severe neurologic impairment. In this study, we analyzed the results of screening for GAI in a Chinese population. Methods: Dry blood spots were obtained at about 3 days of age from 357,307 newborns and tested for elevation of glutaryl (C5DC)-carnitine by tandem mass spectroscopy. A second sample of blood spots was required from those cases with abnormal elevation of C5DC-carnitine (higher than the cut-off value) (recall). If the results remained abnormal, those cases were referred for confirmation of the diagnosis and treatment. Results: Between August 2001 and February 2005, there were 40 cases with C5DC-carnitine more than 0.13 μM (the cut-off value), from whom a second sample of blood spots was obtained (recall rate, 0.02%); two cases were confirmed to be affected by GAL Because of the low positive prediction rate using this cut-off value, we elevated the cut-off value slightly. Between February 2005 and August 2006, there were eight cases with C5DC-carnitine more than 0.22 μM from whom a second sample of blood spots was obtained (recall rate, 0.01%); three cases were confirmed to be affected by GA1. All five cases with persistent elevation of C5DC-carnitine were referred and diagnosis was confirmed in each, giving an incidence of 1 in 71,461 newborns. There were no false negatives. Magnetic resonance imaging studies obtained from four cases showed frontotemporal atrophy at the time of diagnosis. Two cases were followed for over 1 year, and under treatment with dietary control and carnitine supplementation, both had normal development and neither exhibited a frank episode of encephalopathic crisis. Conclusion: With properly established cut-offs, GAI can be successfully screened for in populations with a low incidence of the disease. Early treatment is likely to improve the outcome of cases discovered by screening. ? 2008 Elsevier & Formosan Medical Association. |
URI: | https://www.scopus.com/inward/record.uri?eid=2-s2.0-40749100691&doi=10.1016%2fS0929-6646%2808%2960127-8&partnerID=40&md5=bcd6f88fbd3b7dea2be01bafdda80ca1 https://scholars.lib.ntu.edu.tw/handle/123456789/525987 |
ISSN: | 0929-6646 | DOI: | 10.1016/S0929-6646(08)60127-8 | SDG/關鍵字: | carnitine; glutaryl coenzyme A dehydrogenase; vitamin; aciduria; article; blood analysis; brain atrophy; case report; Chinese; diagnostic accuracy; diagnostic value; diet therapy; early diagnosis; false negative result; follow up; frontal lobe; glutaric aciduria type 1; human; incidence; metabolic encephalopathy; mutational analysis; neuroimaging; newborn; newborn screening; nuclear magnetic resonance imaging; nucleotide sequence; patient referral; prediction; prognosis; reference value; Taiwan; tandem mass spectrometry; temporal lobe; treatment planning |
顯示於: | 醫學系 |
在 IR 系統中的文件,除了特別指名其著作權條款之外,均受到著作權保護,並且保留所有的權利。