摘要
目的 分析甲基丙二酸血症（methylmalonic acidemia,MMA）患者的临床及生化特点,有助于提高临床医生对该病的认识.方法 分析143例MMA患者的临床资料及辅助检测结果,并探讨不同类型患者的表现差异.结果 143例患者中单纯型MMA 53例,MMA合并同型半胱氨酸血症90例.单纯型MMA患者多于出生后1d～1个月发病,主要表现为反复呕吐、代谢性酸中毒、高血氨等;MMA合并同型半胱氨酸血症患者多于1个月～1岁发病,主要表现为运动障碍、贫血等.单纯型MMA和MMA合并同型半胱氨酸血症患者血丙酰肉碱、丙酰肉碱/乙酰肉碱比值及尿甲基丙二酸水平中位数分别为13.54 μmol/L、0.85、632.08和7.97 μmol/L、0.67、161.04,均显著高于对照组（P＜0.01）,2组间各参数均差异有显著性（P＜0.01）.结论 单纯型MMA患者发病较早、病情较重;MMA合并同型半胱氨酸血症较常见,患者临床表现复杂多样.临床医生对于疑似患者需重视血串联质谱和尿气相色谱质谱检测,以便早诊断、早治疗.
Objective Methylmalonic acidemia is a common inborn error of metabolism.According to the level of homocysteine,this disease can be classified into two types,isolated methylmalonic acidemia and methylmalonic acidemia combined with homocystinuria.The diagnosis of this disease is often delayed because of nonspecific clinical and laboratory findings.In this study,the clinical and biochemical features in patients with methylmalonic acidemia were analyzed,investigated and summarized,so as to help clinicians increase their awareness of this disease.Methods From 2003 to 2013,143 patients with methylmalonic acidemia were diagnosed and treated in our hospital.The clinical data of these patients were retrospectively analyzed,and the differences between patients of the two types were explored.Results Of the 143 patients,53 cases （37.1％） were suffering from isolated methylmalonic acidemia （isolated group） and 90 cases （62.9％） from combined methylmalonic acidemia with homocystinuria（combined group）.The peak onset age in the isolated group ranged from 1 day to 1 month,and the common clinical and laboratory findings were recurrent vomiting,metabolic acidosis,and hyperammonemia.Among the combined group,the peak onset age was from 1 month to 1 year,and the most common clinical and laboratory findings were motor disorders and anemia.The levels of blood propionylcarnitine and its ratio with acetylcarnitine,and urine methylmalonic acid,13.54 （4.35-81.02） μmol/L,0.85 （0.38-2.89）,and 632.08 （1 0.87-3 588.18） in the isolated group,and 7.97 （1.50-26.25） μmol/L,0.67 （0.28-2.06）,and 161.04 （6.73-1 375.01） in the combined group,were respectively higher than those in healthy children （P＜0.01）,and the differences in each parameter between the two types were statistically significant（P＜0.01）.Conclusions Earlier onset and marked severity were seen in patients with isolated methylmalonic acidemia.Methylmalonic acidemia combined with homocystinuria was more common,and the clinical manifestation in the affected individuals was complex.Clinicians should pay attention to the utilization of MS/MS and GC-MS for screening the suspected patients,in order to achieve early diagnosis and early treatment.
出处
《中华内分泌代谢杂志》
CAS
CSCD
北大核心
2014年第6期490-494,共5页
Chinese Journal of Endocrinology and Metabolism
基金
“十二五”国家科技支撑计划项目（2012BAI09B04）
上海市科委重大课题（11dz1950300）
关键词
甲基丙二酸血症
串联质谱
气相色谱质谱
丙酰肉碱
甲基丙二酸
Methylmalonic acidemia
Tandem mass spectrometry
Gas chromatography-mass spectrometry
Propionylcarnitine
Methylmalonic acid
