1例肉碱棕榈酰转移酶2缺乏症报道并文献复习

Carnitine Palmitoyltransferase 2 Deficiency:a Case Report and Literature Review

目的:总结肉碱棕榈酰转移酶2(CPT2)缺乏症的诊治经验。方法:回顾性分析1例CPT2缺乏症患儿的临床资料和基因检测结果,并复习相关文献。结果:患儿,男,1岁7个月,第二次发病,两次临床表现主要为横纹肌溶解综合征,基因检测CPT2基因提示突变c. 338C>T(p. S113L)和c. 1711C>A(p. P571T),c. 338C>T(p. S113L)来自母亲,c. 1711C>A(p. P571T)来自父亲,最终确诊为CPT2缺乏症。结论:反复发作的较小年龄横纹肌溶解综合征患儿需警惕遗传代谢病如CPT2缺乏症,通过基因检测做到早发现、早预防。

Objective: To summarize the diagnosis and treatment experience of carnitine palmitoyltransferase 2( CPT2) deficiency.Methods: The clinical data and CPT2 gene test results in one child with CPT2 deficiency were retrospectively analyzed,and the related literature were reviewed. Results: The twice of rhabdomyolysis syndrome were observed in a one year and seven month male child. Gene sequencing showed that there were compound heterozygous mutations in CPT2 gene c. 338 C>T( p. S113 L) and c. 1711 C>A( p. P571 T),c. 338 C>T( p. S113 L) inherited from the mother and c. 1711 C>A( p. P571 T) inherited from the father. And the final diagnosis of CPT2 deficiency was confirmed. Conclusion: Children with recurrent rhabdomyolysis syndrome in younger ages need to be alert to genetic metabolic diseases such as CPT2 deficiency,and gene analysis can be used to early detection and prevention.