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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 explore the value of mass spectrometry in the diagnosis and evaluation of multiple carboxylase deficiency (MCD). Methods Children with neurological diseases, digestive system and skin lesions with unknown clinical diagnosis from 2005 to 2007 in Department of Pediatric Endocrinology and Metabolic Diseases, Xinhua Hospital, Shanghai Jiaotong University were studied by MS / MS, GC / MS ); 10 cases of children diagnosed with MCD were tested for biotin activity and biotin therapy efficacy evaluation. Results (1) The diagnosis of MCD, serum C5-OH level (7.83 ± 3.1) μmol / L (normal <0.5 μmol / L) Methyl crotonyl glycine, methyl citrate, 3-hydroxypropionic acid and other metabolites were significantly increased; 1 case of biotin deficiency, 9 cases of full carboxylase deficiency; (2) 9 cases of MCD children 1 month after birth to 4.7 years old to accept biotin 10 ~ 40mg / d treatment, 1 to 2 weeks of treatment symptoms disappear. The final follow-up was from 7 months to 6 years of age with normal growth and development, and 5 cases were diagnosed as having abnormal intelligence (86 ± 12) points. Blood C5-OH levels were significantly lower than those before treatment (t = 5.543, ), Various metabolites in urine are normal. Conclusion For unknown causes of nervous system and skin lesions, metabolic acidosis in children should be mass spectrometry as early as possible to confirm the diagnosis of MCD; blood C5-OH increased urinary 3-methyl crotonyl glycine and methyl citrate increased MCD The main diagnostic indicators; biotin therapy significant effect.