| 单词 | Carnitine deficiency |
| 释义 |
Carnitine deficiency
原声例句
健身知识科普 Carnitine supplements can still be beneficial, but only in populations that might suffer from carnitine deficiencies, particularly those on a vegan or vegetarian diet, those on an extreme calorie deficit, or the elderly. 肉毒碱补充剂仍然是有益的，但只适用于可能患有肉毒碱缺乏症的人群，特别是那些素食者，那些极度缺乏热量的人，或老年人。
中文百科
卡尼丁缺乏症 Systemic primary carnitine deficiency（重定向自Carnitine deficiency）
卡尼丁缺乏症，又称原发性肉碱缺乏症，是一种罕见的隐性遗传病，属于肉碱缺乏症的一种，因脂酰肉碱转位酶（简称肉碱）基因突变而引起，患者身体缺乏细胞内负责脂肪运输的卡尼丁，当身体燃烧脂肪产生能量时，脂肪酸积聚细胞内，无法正常运送；患者通常在1岁前发病，即使活到4、5岁亦会出现心脏病。病发时会不省，严重者会导致猝死。近年有研究认为这是造成婴儿猝死的重要原因，但因婴儿猝死后多列作死因不明的个案，令该病未受足够关注。
英语百科
Systemic primary carnitine deficiency 卡尼丁缺乏症（重定向自Carnitine deficiency）
Systemic primary carnitine deficiency, (SPCD) also known as carnitine uptake defect, carnitine transporter deficiency (CTD) or systemic carnitine deficiency is an inborn error of fatty acid transport caused by a defect in the transporter responsible for moving carnitine across the plasma membrane. Carnitine is an important amino acid for fatty acid metabolism. When carnitine cannot be transported into tissues, fatty acid oxidation is impaired, leading to a variety of symptoms such as chronic muscle weakness, cardiomyopathy, hypoglycemia and liver dysfunction. The specific transporter involved with SPCD is OCTN2, coded for by the SLC22A5 gene located on chromosome 5. SPCD is inherited in an autosomal recessive manner, with mutated alleles coming from both parents. |
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