精准医学杂志2024，Vol.39Issue(5)：448-451,4.DOI:10.13362/j.jpmed.202405017
肌病型肉碱棕榈酰转移酶Ⅱ缺乏症1例并文献复习
Clinical and literature review of a case of myopathic form of carnitine palmitoyltransferase Ⅱ defi-ciency
摘要
Abstract
Objective To explore the correlations of genotype and phenotype of myopathic form of carnitine palmitoyl-transferase Ⅱ(CPT Ⅱ)deficiency and to improve the clinical understanding of the disease.Methods The clinical data of a case of myopathic form of CPT Ⅱ deficiency were analyzed,including the results of gene detection,diagnosis,treatment,and follow-up.The literature was reviewed to summarize the clinical characteristics,diagnosis,and treatment of CPT Ⅱ deficiency.Results The patient,a 10-month-old girl,was admitted to the hospital with acute enteritis.The blood creatine kinase and myoglobin were significantly increased in the auxiliary examination.Her father had a history of weakness after regular exercise and myoglobinuria.Both the father and the daughter carried the heterozygous pathogenic mutation c.989dupTp.(Ile332fs)in the CPT2 gene,which confirmed the diagnosis of myopathic form of CPT Ⅱ deficiency.After treatment with infection control and supplementation of a large amount of carbohydrates,creatine kinase and myoglobin returned to normal levels.Following discharge,follow-up showed that the patient was in good condition.Conclusion Myopathic form of CPT Ⅱ deficiency is a common disease that affects the lipid metabolism in skeletal muscle and is a common cause of hereditary myoglobinuria.However,its symptoms can be quite subtle and are frequently overlooked in clinical practice.When a patient exhibits repeated increases in creatine kinase as well as exercise in-tolerance,myoglobinuria,or positive family history,the disease should be taken into consideration.关键词
肉碱O-软脂酰转移酶/代谢缺陷,先天性/肌疾病/突变/肌红蛋白尿Key words
Carnitine O-palmitoyltransferase/Metabolism,inborn errors/Muscular diseases/Mutation/Myoglobinuria分类
医药卫生引用本文复制引用
陆光双,夏明农,程云,胡杰,李文博,张帆,杨武..肌病型肉碱棕榈酰转移酶Ⅱ缺乏症1例并文献复习[J].精准医学杂志,2024,39(5):448-451,4.基金项目
安徽医科大学附属六安医院院级基金项目(2021-kykt12) （2021-kykt12）
