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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): 122-128    DOI: 10.3724/zdxbyxb-2022-0107
指南与实践     
极长链酰基辅酶A脱氢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
Expert consensus on diagnosis and treatment of very long-chain acyl-CoA dehydrogenase deficiency
LIN Wenhui
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
 全文: PDF(2272 KB)   HTML( 12 )
摘要：

极长链酰基辅酶A脱氢酶（VLCAD）缺乏症是一种长链脂肪酸氧化代谢障碍性疾病，临床表现有明显异质性，新生儿到成年均可发病，以心脏、肝脏、骨骼肌及脑损害为主。其中，心肌病型较为凶险，病死率高；肝病型和肌病型预后相对较好，但具有潜在致死性；反复发作的低血糖、能量代谢障碍、肝功能损害、心肌病或严重心律失常是导致患者死亡的主要原因。通过新生儿筛查可以早期发现绝大多数患者，及早诊治者预后良好。本共识旨在规范VLCAD缺乏症的筛查、诊断及治疗管理，以改善患者预后，减少患者死亡和残障。
关键词： 极长链酰基辅酶A脱氢酶缺乏症;  常染色体隐性遗传病;  脂肪酸β氧化;  新生儿筛查;  专家共识    
Abstract:

Very long-chain acyl-CoA dehydrogenase (VLCAD) deficiency is a metabolic disease of long chain fatty acid oxidation. The clinical manifestations are heterogeneous, mainly with heart, liver, skeletal muscle and brain damage, and the onset of which can be from newborn to adult. Cardiomyopathy type is more serious with high mortality. The liver failure type and myopathy type would be potentially lethal, but generally the prognosis is relatively good. Recurrent hypoglycemia, energy metabolism disorder, liver dysfunction, cardiomyopathy and serious arrhythmia are the main causes of death. Most patients can be identified through neonatal screening, and the prognosis is usually good in patients with early diagnosis and treatment. The purpose of this consensus is to standardize the diagnosis, treatment and management of VLCAD deficiency, so as to improve the prognosis of patients and reduce death and disability.
Key words: Very long-chain acyl-CoA dehydrogenase deficiency    Autosomal recessive disease    Fatty acid β-oxidation    Neonatal screening    Expert consensus
收稿日期: 2021-10-10 出版日期: 2022-05-17
CLC:  R72  
基金资助: 国家重点研发计划（2018YFC1002200，2018YFC1004900，2017YFC1001700，2016YFC0901505）
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中华医学会医学遗传学分会生化与代谢学组，等

引用本文:

中华医学会医学遗传学分会生化与代谢学组，等. 极长链酰基辅酶A脱氢酶缺乏症筛诊治专家共识[J]. 浙江大学学报（医学版）, 2022, 51(1): 122-128.

LIN Wenhui. Expert consensus on diagnosis and treatment of very long-chain acyl-CoA dehydrogenase deficiency. J Zhejiang Univ (Med Sci), 2022, 51(1): 122-128.

链接本文:

https://www.zjujournals.com/med/CN/10.3724/zdxbyxb-2022-0107    或    https://www.zjujournals.com/med/CN/Y2022/V51/I1/122

患者临床表现

年龄

饮食方案

无症状

0~6月龄

母乳喂养+/-MCT配方奶

>6月龄~2岁

母乳喂养+/-MCT配方奶+低LCT饮食（约占总能量15%）

>2~5岁

低LCT饮食（约占总能量15%~20%）+MCT饮食（约占总能量15%~20%）

>5岁

健康的低脂肪饮食（脂肪约占总能量30%），MCT仅在活动/疾病等能量需求增加时使用

有症状

0~6月龄

MCT配方奶

>6月龄~2岁

MCT配方奶+极少LCT饮食（约占总能量10%）

>2岁

极少LCT饮食（约占总能量10%）+MCT饮食（约占总能量20%~25%）
表 1  极长链酰基辅酶A脱氢酶缺乏症患者推荐饮食方案

植物油

体积（mL）

质量（g）

长链脂肪酸（g）

亚油酸（mg）

α-亚麻酸（mg）

总必需脂肪酸比例（%）

能量（kJ）

亚麻籽油

1

0.9

0.9

114

480

66

33.5

菜籽油/芥花油

1

0.9

0.9

183

84

30

33.5

核桃油

1

0.9

0.9

476

94

63

33.5

葵花籽油

1

0.9

0.9

672

0

75

33.5

玉米油

1

0.9

0.9

482

10

55

33.5

大豆油

1

0.9

0.9

459

61

58

33.5

芝麻油

1

0.9

0.9

372

3

42

33.5

花生油

1

0.9

0.9

288

0

32

33.5

中链三酰甘油

1

0.9

0.0

0

0

0

32.2
表 2  常见植物油必需脂肪酸含量
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