- 期刊
Carnitine Transport Defect Presenting with Hyperammonemia: Report of One Case
以高血壓氨為表現之肉鹼(carnitine)缺乏症：一病例報告
摘要
肉鹼(carnitine)的功能是將長煉脂肪酸運送進入粒線進行氧化，肉鹼和一些有毒脂肪酸結合後也可以加速它們由尿液中排出。肉鹼運用一種非常罕見的先天代謝異常見疾病。一個七月大的女嬰突然發生意識昏迷、膽臟腫大、肝功能不正常及高血壓氨的現象。我們發現她血液中的肉鹼及肉鹼脂肪酸結合物(acylcarnitine)的含量都非常的低。藉由皮膚織維芽細胞肉鹼攝取及運送的分析，我們證實她是一個肉鹼運送障疑的一個患者。在我們幫她補充肉鹼以後，她的狀況很快的改善，在三年的追蹤期間內沒有再發生血氨。她的生長及智慧育正常。雖然肉鹼運送障礙患者一般會發生心肌病變，她的心臟功能一直保持良好。
並列摘要
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.