Song Weiting, Ye Sheng, Zheng Lizhu
Department of Genetics and Metabolism, Ningde Maternal and Child Health Care Hospital, Ningde, Fujian 352199, China.
Zhonghua Yi Xue Yi Chuan Xue Za Zhi. 2023 Feb 10;40(2):161-165. doi: 10.3760/cma.j.cn511377-20220125-00065.
To analyze the blood free carnitine (C0) level and SLC22A5 gene variants in 17 neonates with Primary carnitine deficiency (PCD) and to determine its incidence in local area and explore the correlation between C0 level and genotype.
148 043 newborns born in 9 counties (cities and districts) of Ningde city from September 2016 to June 2021 were selected as study subjects. Blood free carnitine and acyl carnitine of 148 043 neonates were analyzed. Variants of the SLC22A5 gene were screened in those with blood C0 < 10 µmol/L, or C0 between 10 ∼ 15 µmol/L. Correlation between the free carnitine level and genetic variants was analyzed.
In total 17 neonates were diagnosed with PCD, which yielded a prevalence of 1/8 707 in the region. Twelve variants of the SLC22A5 gene were identified, with the common ones including c.760C>T, c.1400C>G and c.51C>G. Compared with those carrying other variants of the gene, children carrying the c.760C>T variant had significantly lower C0 values (P < 0.01).
The prevalence of PCD is relatively high in Ningde area, and intervention measures should be taken to prevent and control the disease. The c. 760C>T variant is associated with lower level of C0, which can provide a clue for the diagnosis.
分析17例原发性肉碱缺乏症（PCD）新生儿的血游离肉碱（C0）水平及SLC22A5基因变异情况，确定其在当地的发病率，并探讨C0水平与基因型之间的相关性。
选取2016年9月至2021年6月在宁德市9个县（市、区）出生的148043例新生儿作为研究对象。分析148043例新生儿的血游离肉碱和酰基肉碱。对血C0<10µmol/L或C0在10～15µmol/L之间的新生儿进行SLC22A5基因变异筛查。分析游离肉碱水平与基因变异之间的相关性。
共诊断出17例PCD新生儿，该地区患病率为1/8707。鉴定出SLC22A5基因的12种变异，常见的有c.760C>T、c.1400C>G和c.51C>G。与携带该基因其他变异的儿童相比，携带c.760C>T变异的儿童C0值显著更低（P<0.01）。
宁德地区PCD患病率相对较高，应采取干预措施防控该病。c.760C>T变异与较低的C0水平相关，可为诊断提供线索。
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