线粒体乙酰乙酰辅酶A硫解酶缺乏症一家系报告并文献复习  

Mitochondrial acetoacetyl-Co A thiolase deficiency: report of three cases in a family and literature review

作　　者：胡宇慧[1] 崔冬[1] 刘麟[1] 陈淑丽[1] 

机构地区：[1]深圳市儿童医院,广东深圳518026

出　　处：《临床儿科杂志》2016年第4期282-286,共5页Journal of Clinical Pediatrics

摘　　要：目的探讨线粒体乙酰乙酰辅酶A硫解酶缺乏症(简称T2缺乏症)的诊断及预后。方法回顾性分析一家系中3例T2缺乏症患儿的临床资料,并复习相关文献。结果例1和例2为先证者,男孩,同卵双胞胎,因发热、呕吐、气促入院,血气分析均显示严重的代谢性酸中毒,尿气相色谱质谱均显示3-羟基丁酸、2-甲基-3-羟基丁酸、甲基巴豆酰甘氨酸-1、3-甲基巴豆酰甘氨酸-1明显增高,二羧酸轻微升高;血串联质谱仪分析结果均显示,C5∶1、C5-OH、C4-OH升高。例3,为例1和例2同胞姐姐,5月龄时因严重代谢性酸中毒住院治疗。3例患儿行ACAT1基因检测均为复合杂合突变,c.622 C>T(p R208X)和c.653 C>T(p S218F)。结论对于以酸中毒为突出表现的患儿,需警惕T2缺乏症,及时行尿气相色谱质谱和血串联质谱分析,以早期诊断和治疗。Objectives To investigate the diagnosis and prognosis of mitochondrial acetoacetyl-CoA thiolase deficiency（T2 deficiency）. Methods The clinical data from three cases in one pedigree were retrospectively analyzed. The relatedliteratures were reviewed. Results Case 1 and 2 were probands, male and monozygotic twins. They were hospitalizedbecause of fever, vomiting, and shortness of breath. The blood gas analysis showed a severely metabolic acidosis. The urine gaschromatography mass spectrometry analysis showed significantly higher level of 3-hydroxybutyrate, 2-methyl-3-hydroxybutyrate,tiglyglycine-1 and 3-tiglyglycine-1, and slightly elevated dicarboxylic acid. The blood tandem mass spectrometry analysisshowed significantly increase of C5：1, C5-OH and C4-OH. Case 3 was the older sister of the twins, and was hospitalized becauseof severely metabolic acidosis at 5 months old. The ACAT1 gene analysis of 3 cases revealed the compound heterozygosity of c.622C 〉 T （p R208X） and c.653 C 〉 T（p S218F）. Conclusions T2 deficiency should be considered in children with an outstandingmanifestation of acidosis. Urine gas chromatography mass spectrometry analysis and blood tandem mass spectrometry analysisshould be performed for early diagnosis and treatment.

关 键 词：线粒体乙酰乙酰辅酶A硫解酶缺乏症 ACAT1基因 尿气相色谱质谱分析 血串联质谱分析 

分 类 号：R725.9[医药卫生—儿科]