Zhejiang Da Xue Xue Bao Yi Xue Ban. 2022 Jun 25;51(3):290-297. doi: 10.3724/zdxbyxb-2022-0218.
To investigate the incidence, clinical characteristics, gene mutations and prognosis of fatty acid oxidation disorders (FAOD) in newborns in Chongqing.
Blood samples were collected from 35 374 newborns for screening of FAOD in the Neonatal Screening Center of Women and Children's Hospital of Chongqing Medical University from July 2020 to February 2022. The acylcarnitine spectrum was detected by tandem mass spectrometry, the positive children in primary screening were recalled within 2 weeks, and the diagnosis of FAOD was confirmed by urine organic acid measurement, blood biochemistry testing and genetic analysis. The confirmed children were given early intervention, treatment and followed-up.
Among 35 374 newborns, there were 267 positive children in primary screening, with a positive rate of 0.75%. Five children with FAOD were diagnosed by gene detection, with an incidence rate of 1/7075. Among them, there were 3 cases of primary carnitine deficiency (PCD, 1/11 791), 1 case of short-chain acyl-CoA dehydrogenase deficiency (SCADD, 1/35 374) and 1 case of very long-chain acyl-CoA dehydrogenase deficiency (VLCADD, 1/35 374). The c.1400C>G and c.338G>A were the common mutations of gene in 3 children with PCD, while c.621G>T was a novel mutation. There were no clinical manifestations during the follow-up period in 2 children with supplementation of L-carnitine. Another child with PCD did not follow the doctor's advice of L-carnitine treatment, and had acute attack at the age of 6 months. The child recovered after treatment, and developed normally during the follow-up. The detected gene mutations were c.417G>C and c.1054G>A in child with SCADD, who showed normal intelligence and physical development without any clinical symptoms. The mutations of gene were c.1349G>A and c.1843C>T in child with VLCADD, who showed acute attack in the neonatal period and recovered after treatment; the child was fed with milk powder rich in medium-chain fatty acids and had normal development during the follow-up.
The incidence of FAOD in Chongqing area is relatively high. PCD is the most common type, and the clinical phenotype of VLCADD is serious. After early diagnosis through neonatal screening, standardized treatment and management is followed, most of FAOD children can have good prognosis.
探讨重庆地区新生儿脂肪酸氧化障碍（FAOD）的发病情况、临床特征、基因突变及预后。
2020 年 7 月至 2022 年 2 月，在重庆医科大学附属妇女儿童医院新生儿筛查中心采集 35 374 例新生儿血样，进行 FAOD 筛查。采用串联质谱法检测酰基肉碱谱，对初筛阳性儿童在 2 周内召回，通过尿有机酸测定、血生化检测和基因分析确诊 FAOD。对确诊患儿给予早期干预、治疗和随访。
35 374 例新生儿中，初筛阳性 267 例，阳性率为 0.75%。5 例 FAOD 患儿经基因检测确诊，发病率为 1/7075。其中原发性肉碱缺乏症（PCD）3 例（1/11 791），短链酰基辅酶 A 脱氢酶缺乏症（SCADD）1 例（1/35 374），极长链酰基辅酶 A 脱氢酶缺乏症（VLCADD）1 例（1/35 374）。3 例 PCD 患儿基因均存在 c.1400C>G 和 c.338G>A 常见突变，另 1 例患儿存在 c.621G>T 新型突变。2 例补充左卡尼汀的患儿在随访期无临床表现，1 例未按医嘱补充左卡尼汀的 PCD 患儿 6 月龄时急性发作，经治疗后恢复，随访时发育正常。SCADD 患儿基因检测发现 c.417G>C 和 c.1054G>A 突变，患儿智力、体格发育正常，无临床症状。VLCADD 患儿基因检测发现 c.1349G>A 和 c.1843C>T 突变，患儿生后即出现急性发作，经治疗后恢复，随访时予中链脂肪酸奶粉喂养，发育正常。
重庆地区 FAOD 发病率较高，以 PCD 最常见，VLCADD 临床表型严重。通过新生儿筛查早期诊断后，给予规范的治疗和管理，多数 FAOD 患儿预后良好。
