本文關(guān)鍵詞： 電子轉(zhuǎn)運(yùn)黃素蛋白脫氫酶 戊二酸尿癥 低血糖 肌無力 兒童　出處：《中國當(dāng)代兒科雜志》2017年10期 　論文類型：期刊論文

【摘要】：患兒,男,11歲,間斷乏力、行走困難6年,發(fā)作性意識(shí)不清4年;輔助檢查提示嚴(yán)重代謝性酸中毒、低血糖、肝功能異常,CT示肝臟明顯增大、呈脂肪密度影。給予補(bǔ)液、糾酸、糾正低血糖,以及左卡尼汀、復(fù)合維生素B、輔酶Q10等治療,患兒持續(xù)昏迷、代謝性酸中毒及低血糖難以糾正,患兒死亡。血、尿有機(jī)酸篩查和基因檢測(cè)證實(shí)為電子轉(zhuǎn)運(yùn)黃素蛋白脫氫酶編碼基因(ETFDH)缺陷所致的遲發(fā)型戊二酸尿癥Ⅱ型(GAⅡc型)。GAⅡc型是一種發(fā)病率很低的遺傳性代謝病,易誤診誤治。對(duì)于反復(fù)乏力或活動(dòng)耐力下降、低血糖、肝臟明顯增大伴肝功能異常的患兒,應(yīng)考慮GAⅡ型的可能,尿有機(jī)酸分析和血串聯(lián)質(zhì)譜分析可提供診斷線索,ETFDH基因分析可提供確診依據(jù)。
[Abstract]:The children were 11 years old, with intermittent fatigue, 6 years of walking difficulty, and 4 years of agitated consciousness. The auxiliary examination showed severe metabolic acidosis, hypoglycemia and abnormal liver function. Ct showed that the liver was obviously enlarged and showed fat density shadow. Correction of hypoglycemia, and treatment of levacarnitine, complex vitamin B, coenzyme Q10, etc., continued coma, metabolic acidosis and hypoglycemia are difficult to correct, the child died. Urinary organic acid screening and gene detection confirmed that the delayed type glutaric acid disease type 鈪，

本文編號(hào)：1509944