Brain Damage by Mild Metabolic Derangements in Methylmalonic Acidemia

Ni Chung Lee, Yin Hsiu Chien, Shinn Forng Peng, Ai Chu Huang, Tze Tze Liu, Ariel Sing Huei Wu, Li Chu Chen, Li Wen Hsu, Shih Chuan Tseng, Wuh Liang Hwu*

*此作品的通信作者

研究成果: Article同行評審

22 引文 斯高帕斯(Scopus)

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.

原文English
頁(從 - 到)325-329
頁數5
期刊Pediatric Neurology
39
發行號5
DOIs
出版狀態Published - 11月 2008

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