Seven M, Cengiz M, Tüzgen S, Iscan M Y
Genetik Araştirma Merkezi, Cerrahpaşa Tip Fakültesi, Istanbul Universitesi, Cerrahpaşa, Istanbul, Turkey.
Am J Hum Biol. 2001 Nov-Dec;13(6):721-5. doi: 10.1002/ajhb.1117.
Carnitine is responsible for several chemical processes, including lipid metabolism, nerve cell conduction, reduction in muscle hypotonia, and limitation in oxidative damage to cells. In patients with Down syndrome (DS), the process of growth is behind that of normal children and neuromuscular control is attained somewhat later. The purpose of this study was to assess variation in levels of carnitine in normal and DS children and the relationship between the amount of carnitine and age. The study involved 30 (15 girls, 15 boys) normal children and 40 (20 girls, 20 boys) DS patients of Turkish ancestry, 6 months to 13 years of age. Carnitine level was determined using Deufel's enzymatic method. Carnitine level was significantly lower in DS patients compared with normal children between 6 months to 5 years of age. Between 5 and 13 years of age, the level of carnitine was about the same in both the normal and DS groups. The results suggest that carnitine level shows a different pattern of age related increase in DS compared to normal children.
肉碱负责多种化学过程，包括脂质代谢、神经细胞传导、降低肌肉张力减退以及限制细胞氧化损伤。在唐氏综合征（DS）患者中，生长过程落后于正常儿童，神经肌肉控制的获得也稍晚一些。本研究的目的是评估正常儿童和DS儿童体内肉碱水平的差异以及肉碱含量与年龄之间的关系。该研究纳入了30名（15名女孩，15名男孩）6个月至13岁的正常儿童和40名（20名女孩，20名男孩）具有土耳其血统的DS患者。采用德费尔酶法测定肉碱水平。在6个月至5岁的年龄段，DS患者的肉碱水平显著低于正常儿童。在5至13岁之间，正常组和DS组的肉碱水平大致相同。结果表明，与正常儿童相比，DS患者的肉碱水平随年龄增长呈现出不同的模式。
