关键词: 多种酰基辅酶A脱氢酶缺乏症, 脂质沉积性肌病, ETFDH基因, 儿童

Abstract: Objective:To study the clinical manifestations of the patients with multiple acyl-coa dehydrogenase deficiency with transaminase increase, the laboratory tests, muscle biopsy and gene mutations, and to review the literature in order to provide the evidence for the early diagnosis and treatment of the disease.
Methods;Collectthe clinical data of a boy aged 7 years and 3 months, and take the blood samples of the child and his parents. The second-generation gene sequencing was used to detect the pathogenic gene, and gastrocnemius muscle biopsy was used to find out the muscle condition.
Results:The electron microscopic results of the muscle biopsy showed that there was a lot of lipid droplets in the myofiber. The gene sequencing results showed that there were nonsense mutation of c.1773＿1774 del AT p.(Cys592※) and missense mutation of c.389A＞T p.(Asp130Val) in ETFDH genes of the child, which was considered to be complex heterozygous mutation. The parents were the carriers.
Conclusion:Clinically there are people with transaminase increase complicated with increase of myocardial enzymes and movement disorders, in whom molecular genetic examinations should be performed as soon as possible. The patients with suitable conditions should be given gastrocnemius muscle biopsy, which can provide accurate hereditary consultation and prenatal diagnosis for the family of the patient.

Key words: Multiple acyl-coa dehydrogenase deficiency, Lipid storage myopathy, ETFDH gene, Child