| 戊二酸血症1型诊治专家共识 |
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| 引用本文： | 中国医师协会儿科分会内分泌遗传代谢学组,中华预防医学会出生缺陷预防与控制专业委员会新生儿筛查学组,中华医学会儿科学分会出生缺陷预防和控制专业委员会,韩连书,杨艳玲,杨茹莱,陈瑞敏,黄新文.戊二酸血症1型诊治专家共识[J].中华医学遗传学杂志,2021(1):1-6. |
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| 作者姓名： | 中国医师协会儿科分会内分泌遗传代谢学组 中华预防医学会出生缺陷预防与控制专业委员会新生儿筛查学组 中华医学会儿科学分会出生缺陷预防和控制专业委员会 韩连书 杨艳玲 杨茹莱 陈瑞敏 黄新文 |
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| 作者单位： | 上海交通大学医学院附属新华医院;北京大学第一医院;浙江大学附属儿童医院;福建医科大学附属福州儿童医院 |
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| 基金项目： | 国家重点研发计划(2016YFC0901505,2017YFC1001700,2018YFC1002700,2018YFC1002404)。 |
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| 摘 要： | 戊二酸血症1型(glutaricacidemia type 1,GA1)是一种常染色体隐性遗传病,由于戊二酰辅酶A脱氢酶活性降低或缺失导致赖氨酸、羟赖氨酸及色氨酸分解代谢受阻,代谢产物戊二酰肉碱、戊二酸等在体内异常蓄积,引起代谢紊乱,主要导致神经系统受损。患者临床表现为巨颅、肌张力障碍、运动障碍及发育落后等,常在婴幼儿期由于感染、疫苗接种及手术等诱发急性脑病。由于GA1罕见,临床表现与其他神经系统疾病表现类似,特异性不强,易漏诊或误诊。为了早期诊断和治疗,改善患儿预后,指导临床医师合理诊治,由国内儿科内分泌遗传代谢科专家共同讨论,结合国内外研究进展及国际指南,制定了本共识。
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| 关 键 词： | 戊二酸血症1型 诊断 治疗 共识 |
Expert consensus for the diagnosis and treatment of glutaricacidemia type 1 |
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| Endocrinology,Genetics and Metabolism Group,Pediatric Branch of Chinese Medical Association,Neonatal Screening Group,Specialist Committee for Prevention and Control of Birth Defects Chinese Association of Preventive Medicine,Prevention and Control Committee of Birth Defects,Pediatric Branch of Chinese Medical Association,Han Lianshu,Yang Yanling,Yang Rulai,Chen Ruimin,Huang Xinwen.Expert consensus for the diagnosis and treatment of glutaricacidemia type 1[J].Chinese Journal of Medical Genetics,2021(1):1-6. |
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| Authors: | Endocrinology Genetics and Metabolism Group Pediatric Branch of Chinese Medical Association Neonatal Screening Group Specialist Committee for Prevention and Control of Birth Defects Chinese Association of Preventive Medicine Prevention and Control Committee of Birth Defects Pediatric Branch of Chinese Medical Association Han Lianshu Yang Yanling Yang Rulai Chen Ruimin Huang Xinwen |
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| Institution: | (不详;Shanghai Institute of Pediatrics,Xinhua Hospital Affiliated to Shanghai Jiaotong University School of Medicine,Shanghai 200092,China;The First Hospital of Peking University,Beijing 100034,China;Children’s Hospital Affiliated to Zhejiang University,Hangzhou,Zhejiang 310003,China;Fuzhou Children’s Hospital Affiliated to Fujian Medical University,Fuzhou,Fujian 350005,China) |
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| Abstract: | Glutaricacidemia type 1(GA1)is an autosomal recessive disease caused by reduced or missing glutaryl-CoA dehydrogenase activity which hamps metabolism of lysine,hydroxylysine and tryptophan.The catabolic products of glutarylcarnitine and glutaric acid are abnormally accumulated in the body,resulting in metabolic disorders which primarily lead to damage to the nervous system.Clinical manifestations of patients include macrocephaly,dystonia,dyskinesia,and developmental retardation.Acute encephalopathy may be induced in infants and young children due to infection,vaccination and surgery.For GA1 is a rare disease and its clinical manifestations are similar to other neurological diseases,it may be easily missed or misdiagnosed.To facilitate early diagnosis and treatment and improve the prognosis,this consensus was formulated by pediatric experts from the fields of endocrinology and genetic metabolism through full discussion and reference to the latest literature and guidelines home and abroad. |
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| Keywords: | Glutaricacidemia type 1 Diagnosis Treatment Consensus |
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