https://scholars.lib.ntu.edu.tw/handle/123456789/526082
標題: | Carnitine transport defect presenting with hyperammonemia: Report of one case | 作者: | WUH-LIANG HWU Chiang S.-C. MEI-HWEI CHANG Wang T.-R. |
公開日期: | 2000 | 卷: | 41 | 期: | 1 | 起(迄)頁: | 36-38 | 來源出版物: | Acta Paediatrica Taiwanica | 摘要: | Carnitine (β-hydroxy-γ-trimethylaminobutyric acid) is involved in the transport of long-chain fatty acids into the mitochondrial matrix and removal of potentially toxic acylcarnitine esters. Carnitine transport defect is a very rare metabolic disease. A 7-month-old female infant was found to have consciousness disturbance, hyperammonemia, hepatomegaly and elevated transaminases. Both the concentrations of free carnitine and acylcarnitines in her blood were very low. The diagnosis of carnitine transport defect was confirmed by assays of carnitine uptake and transport in skin fibroblasts. She responded dramatically to carnitine therapy, and there was no hyperammonemia attack for more than 3 years. Her cardiac function also remained normal. |
URI: | https://www.scopus.com/inward/record.uri?eid=2-s2.0-0034043888&partnerID=40&md5=2784aac1b30aa4e9d9d219f7e108d507 https://scholars.lib.ntu.edu.tw/handle/123456789/526082 |
ISSN: | 0001-6578 | SDG/關鍵字: | acylcarnitine; aminotransferase; carnitine; article; blood level; carnitine deficiency; case report; fatty acid transport; female; hepatomegaly; human; hyperammonemia; infant; treatment outcome; Ammonia; Biological Transport; Carnitine; Child, Preschool; Female; Humans |
顯示於: | 醫學系 |
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