中链酰基辅酶A脱氢酶缺乏症1例肝脏病理分析及基因检测

Hepatic pathology and genetic testing in one case of medium chain acyl-coenzyme A dehydrogenase deficiency

目的探讨中链酰基辅酶A脱氢酶缺乏症(MCADD)的诊断和治疗。方法回顾性分析1例MCADD患儿的临床表现、实验室检查以及基因检测结果,并复习相关文献。结果 3岁男性患儿,有一过性低血糖、高氨血症、肝功能损伤;血串联质谱分析提示辛酰肉碱、多种酰基肉碱增高,尿气相色谱质谱分析正常;基因检查示酰基辅酶A脱氢酶基因(acyl-Coenzyme A dehydrogenase,ACADM)c.572G>A p.(Trp191*)纯合突变;肝脏病理提示肝细胞轻度损害,炎症程度2级,纤维化程度1级。给予高碳水化合物、高蛋白、低脂肪饮食,积极护肝、降酶、补充肉碱等治疗后患儿肝功能恢复正常。结论血串联质谱分析及基因检测可确诊MCADD,确诊后应积极补充高能量营养物质、肉碱,以预防疾病发作和病情进展。

Objective To explore the diagnosis and treatment of medium chain acyl-CoA dehydrogenase deficiency（MCADD）. Methods The clinical symptoms, laboratory examination and gene detection in one case of MCADD was analyzedretrospectively. The related literatures were reviewed. Results A male child aged 3 years presented transient hypoglycemia,hyperammonemia, and liver dysfunction. Tandem mass chromatography detected acetyl carnitine and multiple acyl carnitinesincrease in blood. However, the gas chromatography-mass spectrometry showed normal results in urine. Gene testing found ahomozygous mutation in acyl-Coenzyme A dehydrogenase （ACADM）, c.572G 〉 A p. （Trp191＊）. The hepatic pathology showedmild damage in hepatocyte, with degrees II inflammation and degree I fibrosis. After treatment of protecting liver and reducingenzyme, and carnitine supplementation, as well as the diet with high carbohydrate, high protein, and low fat, the liver function ofthe patient was back to normal. Conclusion The use of tandem mass chromatography in blood and gene detection could make adiagnosis of MCADD. Supplement of high energy nutrients and carnitine were benefit to prevent the progress of MCADD.