carnitine deficiency 中文意思是什麼
carnitine deficiency
解釋
肉毒堿缺乏病- carnitine : n. 【生物化學】肉堿。
- deficiency : n. 1. 缺乏，不足，短缺。2. 缺陷。3. 不足額；虧空。
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Carnitine is essential to human for the transportation of lipid which is required for generation of energy in cells. carnitine deficiency impairs energy generation
脂肪酸在細胞內進行分解而產生能量，當細胞缺乏卡尼丁時，便無法生產能量，影響正常運作。 -
Among the definable underlying diseases, 31. 0 % were diagnosed as inherited metabolic disorders, including mitochondrial disorders ( n = 4 ), primary systemic carnitine deficiency ( n = 1 ), pompe disease ( n = 3 ) and mucopolysaccharidosis ( mps ) i ( n = 1 )
此外在這個研究分析中發現，有很大部分的心肌病變兒童（ 50 % ）並未找到造成疾病的根本原因；並且這部分的兒童亦未曾接受過適當的遺傳與代謝疾病篩檢。 -
Primary carnitine deficiency is a genetic disease, which shows no apparent symptoms in either the parent or the infant. however, the affected child is threatened with the danger of sudden death before the age of one. cardiomyopathy may develop in their later childhood
有這種遺傳病的家庭父母一般都沒有明顯病徵，而患病的兒童可能在嬰兒時期（一般在一歲前）出現急性病徵，包括不省人事、低血醣，嚴重者會導致猝死。 -
A gene associated with primary carnitine deficiency, now called 0ctn2 was identified. mutations in 0ctn2 lead to this life - threatening disease. now, early genetic diagnosis of affected child is possible and appropriate treatments can be provided well in advance
此項發現能準確地確定患者的遺傳基因病變，及在患病家庭中分辨出攜帶基因者及患病者，從而可以及早進行適當的治療。 -
Primary carnitine deficiency was diagnosed as the cause for the sudden death in both children. this was the first case of primary carnitine deficiency in hong kong
鄧教授培植了猝死嬰兒的皮下細胞，在進行多方面的檢驗后，確定該名嬰兒因患有卡尼丁缺乏癥而致死。
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