https://scholars.lib.ntu.edu.tw/handle/123456789/514157
標題: | Brain Damage by Mild Metabolic Derangements in Methylmalonic Acidemia | 作者: | NI-CHUNG LEE YIN-HSIU CHIEN STEVEN SHINN-FORNG PENG Huang A.-C. Liu T.-T. Wu A.S.-H. Chen L.-C. Hsu L.-W. Tseng S.-C. WUH-LIANG HWU |
公開日期: | 2008 | 卷: | 39 | 期: | 5 | 起(迄)頁: | 325-329 | 來源出版物: | Pediatric Neurology | 摘要: | Methylmalonic acidemia caused by an l-methylmalonyl-CoA mutase deficiency. The mut0 type is associated with significant mortality and morbidity, but tandem mass spectrometry has made early detection possible. Five patients were identified through newborn screening for elevated propionylcarnitine (C3-carnitine) levels. These patients received a positive screening result at a median age of 10 days (range, 5-18 days). When treated at a median age of 11 days (range, 3-50 days), 2 patients were asymptomatic, and only one was significantly acidotic (pH <7.2), but all had various degrees of hyperammonemia (range, 127-1,244 μmol/L). Magnetic resonance imaging of the brain was performed in 4 patients shortly after diagnosis, and the results were all abnormal. Four patients were followed. There was no further metabolic decompensation after the initial episodes, but their mean developmental quotient was only 50. These results suggest that early hyperammonemia can lead to significant brain damage in methylmalonic acidemia. Therefore, treatment of this disease in newborns must be more aggressive. ? 2008 Elsevier Inc. All rights reserved. |
URI: | https://scholars.lib.ntu.edu.tw/handle/123456789/514157 | ISSN: | 0887-8994 | DOI: | 10.1016/j.pediatrneurol.2008.07.018 | SDG/關鍵字: | article; brain damage; clinical article; clinical feature; human; hyperammonemia; infant; methylmalonic acidemia; morbidity; mortality; newborn; newborn screening; nuclear magnetic resonance imaging; pH; preschool child; priority journal; tandem mass spectrometry; Brain; Child, Preschool; Humans; Hyperammonemia; Infant; Infant, Newborn; Magnetic Resonance Imaging; Metabolism, Inborn Errors; Methylmalonic Acid; Methylmalonyl-CoA Mutase; Neonatal Screening; Phenotype; Severity of Illness Index |
顯示於: | 醫學院附設醫院 (臺大醫院) |
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