中国实用儿科杂志2025，Vol.40Issue(12)：1004-1009,6.DOI:10.19538/j.ek2025120607
3-羟基-3-甲基戊二酰辅酶A裂解酶缺乏症的诊断和代谢治疗
Diagnosis and metabolic treatment of 3-hydroxy-3-methyl-glutaryl-CoA lyase deficiency
摘要
Abstract
3-hydroxy-3-methylglutaryl-CoA lyase deficiency(HMGCLD),also known as 3-hydroxy-3-methylglutaric aciduria,is a rare autosomal recessive disorder.The disease can present at any age,most often triggered by stress factors such as infection,hunger,or fatigue,which can lead to acute metabolic decompensation.Without timely intervention,the disease may be fatal,while survivors often develop neurological sequelae.Approximately one-third of reported cases have first onsets during the neonatal period.Common clinical manifestations include hypoketotic hypoglycemia,hyperammonemia,severe metabolic acidosis,hepatic dysfunction,seizures,and coma.Diagnosis relies on plasma amino acid and acylcarnitine profiling,urinary organic acid analysis,and genetic testing.Biochemically,patients typically show elevated 3-hydroxyisovalerylcarnitine(C5OH)and reduced free carnitine in plasma,increased urinary excretion of 3-hydroxy-3-methylglutaric acid and 3-methylglutaconic acid,and HMGCL gene variants.HMGCLD is a treatable organic acidemia.Long-term management focuses on restricting protein and fat intake and supplementation of L-carnitine and other essential nutrients.To enhance clinical awareness of the disease,this review provides a comprehensive summary of the pathogenesis,clinical manifestations,diagnostic approaches,and therapeutic strategies for HMGCLD.关键词
3-羟基-3-甲基戊二酰辅酶A裂解酶缺乏症/3-羟基-3-甲基戊二酸尿症/遗传代谢病/有机酸尿症Key words
3-hydroxy-3-methylglutaryl-CoA lyase deficiency/3-hydroxy-3-methylglutaric aciduria/inherited metabolic diseases/organic aciduria分类
医药卫生引用本文复制引用
张议丹,吴迪,杨艳玲,丁圆..3-羟基-3-甲基戊二酰辅酶A裂解酶缺乏症的诊断和代谢治疗[J].中国实用儿科杂志,2025,40(12):1004-1009,6.基金项目
北京市自然科学基金资助项目(7234365) （7234365）
