[Clinical features and gene mutations of 6 patients with carnitine palmitoyltransferase 1A deficiency].

The clinical and biochemical data and gene sequencing results of patients with carnitine palmitoyltransferase 1A deficiency were analyzed, in order to improve the understanding of the disease. Six patients (5 males and 1 female, aged from 1 to 8 years old) with carnitine palmitoyltransferase 1A deficiency from Department of Pediatric Endocrinology and Genetic Metabolism, Xinhua Hospital between 2008 and 2019 were included. Two cases were detected by neonatal screening and had no clinical symptoms. The remaining 4 cases all showed seizures induced by fever, vomiting or diarrhea. All the 6 patients showed increased serum free carnitine (C0), decreased hexadecanoylcarnitine (C16) and octadecanoylcarnitine (C18), and increased C0/(C16+C18). Meanwhile, compound heterozygous mutations of CPT1A gene were detected in all 6 patients, of which 2 were reported mutations (c.281+1G>A and c.968-8C>T), and 10 were new mutations. The new mutations included 6 missense mutations, 1 nonsense mutation, 1 deletion mutation and 2 splicing mutations. Detection of free carnitine and acyl carnitine by tandem mass spectrometry is helpful for early screening and diagnosis of carnitine palmitoyltransferase 1A deficiency.本文通过分析肉碱棕榈酰转移酶1A（CPT1A）缺乏症患儿的临床、生化资料及基因测序结果，以提高临床医师对该病的认识。2008至2019年上海交通大学医学院附属新华医院儿童内分泌遗传代谢科CPT1A缺乏症患儿6例，男5例，女1例，年龄1~8岁。2例由新生儿筛查发现，无临床症状，另4例均以“发热或呕吐、腹泻”为诱因，以“抽搐”为突出症状。患儿血游离肉碱（C0）升高，十六碳酰基肉碱（C16）、十八碳酰基肉碱（C18）降低，C0/（C16+C18）升高。6例患儿均检测到CPT1A基因复合杂合突变，其中2种为已报道突变（c.281+1G>A和c.968-8C>T），10种为新报道突变。新报道突变包含6种错义突变，1种无义突变，1种缺失突变及2种剪切突变。血串联质谱游离肉碱与酰基肉碱检测有助于早期筛查和诊断。.