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浙江大学学报（医学版）
浙江大学学报（医学版）  2022, Vol. 51 Issue (1): 129-135    DOI: 10.3724/zdxbyxb-2022-0164
指南与实践     
多羧化酶缺乏症筛诊治专家共识
中华医学会医学遗传学分会生化与代谢学组，等
中华医学会医学遗传学分会生化与代谢学组，中国妇幼保健协会儿童疾病与保健分会遗传代谢学组，北京医学会罕见病分会遗传代谢病学组
Expert consensus on screening, diagnosis and treatment of multiple carboxylase deficiency
SHAO Jing
Division of Biochemistry and Metabolism, Medical Genetics Branch, Chinese Medical Association; Division of Genetics and Metabolism, Child Diseases and Health Care Branch, Chinese Association for Maternal and Child Health; Division of Genetics and Metabolism, Rare Diseases Committee of Beijing Medical Association
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摘要：

多羧化酶缺乏症（MCD）包括常染色体隐性遗传的全羧化酶合成酶（HLCS）缺乏症和生物素酶（BTD）缺乏症，分别因HLCS及BTD基因突变所致。新生儿筛查HLCS缺乏症依据干血斑3-羟基异戊酰基肉碱检测，BTD缺乏症依据干血斑BTD活性检测。HLCS缺乏症和BTD缺乏症患儿均表现为以神经及皮肤损害为主要临床特征的有机酸尿症，但在起病年龄、神经症状和代谢失代偿等方面有所不同，须与获得性生物素缺乏或其他遗传代谢病鉴别，确诊须结合血尿生化特点、酶活性和基因检测结果。大部分MCD患儿采用生物素常规剂量疗效显著。制订本共识旨在帮助MCD患儿的早期筛查和诊治。
关键词： 多羧化酶缺乏症;  全羧化酶合成酶缺乏症;  生物素酶缺乏症;  新生儿筛查;  诊治;  专家共识    
Abstract:

Multiple carboxylase deficiency (MCD) includes autosomal recessive holocarboxylase synthetase (HLCS) deficiency and biotinidase (BTD) deficiency, which are caused by HLCS and BTD gene mutations respectively. Neonatal screening for HLCS deficiency is based on 3-hydroxyisovaleryl carnitine in dry blood filter paper, and BTD deficiency is based on BTD activity determination. HLCS deficiency and BTD deficiency are characterized by neurocutaneous syndrome and organic aciduria, however, they are different in onset age, neurological symptoms and metabolic decompensation, which needed to be differentiated from acquired biotin deficiency or other genetic metabolic diseases. The diagnosis of the disease requires a combination of biochemical characteristics of hematuria, enzyme activity determination and genetic test. Routine biotin doses are effective for most MCD patients. This consensus is intended to benefit early screening and diagnosis of MCD.
Key words: Multiple carboxylase deficiency    Holocarboxylase synthetase deficiency    Biotinidase deficiency    Neonatal screening    Diagnosis and treatment    Expert consensus
收稿日期: 2021-04-09 出版日期: 2022-05-17
CLC:  R72  
基金资助: 国家重点研发计划（2018YFC1002204，2018YFC1004900，2017YFC1001700）；国家自然科学基金（82073560）
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引用本文:

中华医学会医学遗传学分会生化与代谢学组，等. 多羧化酶缺乏症筛诊治专家共识[J]. 浙江大学学报（医学版）, 2022, 51(1): 129-135.

SHAO Jing. Expert consensus on screening, diagnosis and treatment of multiple carboxylase deficiency. J Zhejiang Univ (Med Sci), 2022, 51(1): 129-135.

链接本文:

https://www.zjujournals.com/med/CN/10.3724/zdxbyxb-2022-0164    或    https://www.zjujournals.com/med/CN/Y2022/V51/I1/129

图 1  MCD筛查和诊断流程图MCD：多羧化酶缺乏症；HLCS：全羧化酶合成酶；BTD：生物素酶；C5-OH：3-羟基异戊酰基肉碱；3-OHIV：3-羟基异戊酸；3-MCG： 3-甲基巴豆酰甘氨酸；3-OHP：3-羟基丙酸.
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