摘要
目的探讨质谱技术在多种羧化酶缺乏症（MCD）的诊断及疗效评估中的应用价值。方法2005—2007年上海交通大学附属新华医院小儿内分泌遗传代谢病室对临床诊断不明的神经系统、消化系统、皮肤损害等患儿，进行串联质谱（MS／MS）、气相色谱-质谱（GC／MS）检测；对诊断为MCD的10例患儿进行生物素酶活性检测以及生物素治疗疗效评价。结果（1）10例患儿诊断为MCD，血3-羟基异戊酰肉碱（C5-OH）浓度（7．83±3．1）μmol／L（正常〈0．5μmol／L），其中9例尿3-甲基巴豆酰甘氨酸、甲基枸橼酸、3-羟基丙酸等代谢产物明显增高；1例为生物素酶缺乏，9例为全羧化酶合成酶缺乏；（2）9例MCD患儿在生后1个月至4．7岁接受生物素10—40mg／d治疗，治疗1—2周症状消失。末次随访年龄7个月至6岁，生长发育正常，5例智商（86±12）分；血C5-OH（1．57±1．75）μmol／L，较治疗前明显下降（t=5．543，P〈0．01），尿中各种代谢产物正常。结论对不明原因神经系统及皮肤损害、代谢性酸中毒患儿应及早进行质谱分析，以明确MCD诊断；血C5-OH增高、尿3-甲基巴豆酰甘氨酸及甲基枸橼酸增高是MCD的主要诊断指标；生物素治疗疗效显著。
Objective To investigate the application of mass spectrometry to diagnosis and evaluation of therapeutic effect for multiple carboxylase deficiency（MCD）. Methods The analysis of tandem mass spectrometry（MS/MS） and gas chromatography/mass spectrometry （ GC/MS ） were performed for patients with unknown neurological damage and symp- toms of digestive system,incurable skin lesion in Dept. of Pediatric Endocrinology and Genetic Metabolism,Xin Hua Hospital in 2005-2007. The determination of biotinidase activity was done for patients with MCD. Evaluate the therapeutic effect of biotin. Results （ 1 ） Ten patients were diagnosed with MCD. Their blood 3-hydroxyisovaleryl-carnitine （ CS-OH ） levels were （7.83 ±3.1 ）μmol/L（ norm. 〈0. 5μmol/L） and the urinary abnormal metabolic products such as 3-methylcrontonylglycine, methylcitrate ,3-OH：propionate etc. were remarkably increased in 9 of 10 patients. One patient was diagnosed .with biotinidase deficiency and the other 9 patients were diagnosed with holocarboxylase synthetase deficiency. （ 2 ） Nine patients were treated with biotin （ 10 ±40） mg/d at 1 m - 4. 7y of age. The clinical symptoms disappeared after one to two weeks of treatment. These treated patients last visited us at 7m - 6y of age;they had normal physical development,the intelligence quotient （ IQ ） being （ 86 ± 12 ） score in five patients. Their blood .CS-OH levels were （ 1.57 ± 1.75 ） p.mol/L, which was remarkably decreased compared with the levels before treatment （ t = 5. 543, P 〈 0.01 ） ;the urinary metabolic products were normal at the last visit. Conclusion The analysis of MS/MS and GC/MS should be carried early out for all patients with unknown neurological damage, incurable skin lesion and metabolic acidosis as well in order to make a diagnosis of MCD. The diagnostic marks of MCD are higher blood 3-hydroxyisovaleryl-carnitine （ CS-OH ） and urinary 3-meth ylcrontonylglycine, methylcitrate etc. The biotin treatment is very effective for p
出处
《中国实用儿科杂志》
CSCD
北大核心
2008年第8期582-585,共4页
Chinese Journal of Practical Pediatrics
基金
上海交通大学医学院科技基金项目(06XJ21024)
上海市重点学科建设项目(T0204)
关键词
生物素酶
全羧酶合成酶
生物素
串联质谱
气相色谱-质谱
Biotinidase
Holocarboxylase synthetase
Biotin
Tandem mass spectrometry
Gas chromatography/ mass spectrometry
