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目的对57例甲基丙二酸尿症合并同型半胱氨酸血症患者进行回顾性研究。方法1996-2006年就诊的96例甲基丙二酸尿症患者中57例(59.4%)合并同型半胱氨酸血症,来自中国大陆16个省市,其中男32例,女25例,通过尿液、血液生化分析诊断,尿液有机酸测定采用 GCMS 分析技术,血清、尿液总同型半胱氨酸检测采用荧光偏振免疫测定法。结果 57例患者尿中甲基丙二酸均显著增高,血清总同型半胱氨酸81.5～226.5μmol/L(正常对照4.5～12.4μmol/L),尿液总同型半胱氨酸79.1～414.5μmol/L(正常对照1.0～20.0~μmol/L)。其中13例(22.8%)于新生儿期发病,临床表现类似缺血缺氧性脑病;14例(24.6%)于1个月～1岁内发病,以神经系统损害为主要表现;9例(15.8%)于1岁～学龄前发病,以智力运动倒退为主要表现;18例(31.6%)于6～15岁发病,其中7例合并肝、肾、周围神经等多脏器损害。3例(5.3%)分别于16、24、34岁出现进行性智力运动倒退等异常。57例患者中11例(19.3%)死亡。46例(80.7%)接受维生素 B_(12)、叶酸、左旋肉碱、甜菜碱补充治疗,逐渐好转,11例(19.3%)完全康复。结论甲基丙二酸尿症合并同型半胱氨酸血症是中国人甲基丙二酸尿症的常见类型,患者个体差异大,可于新生儿期至成年各个时期发病,临床诊断困难。对于甲基丙二酸尿症患者应及早进行血浆、尿液总同型半胱氨酸测定,鉴别诊断,合理治疗。
Objective To retrospectively study 57 cases of methylmalonic aciduria with homocysteinemia. Methods 57 patients (59.4%) with 96 cases of methylmalonic aciduria who were diagnosed in 1996-2006 were diagnosed as having homocysteinemia from 16 provinces and cities in China, including 32 males and 25 females, Through urine and blood biochemical analysis, determination of urine organic acids using GCMS analysis, serum and urine total homocysteine were detected by fluorescence polarization immunoassay. Results The urinary methylmalonic acid was significantly increased in all 57 patients. The total homocysteine in serum was 81.5 ~ 226.5μmol / L (4.5 ~ 12.4μmol / L in normal control), and the total homocysteine in urine was 79.1 ~ 414.5 μmol / L (normal control 1.0 ~ 20.0 ~ μmol / L). Among them, 13 cases (22.8%) were diagnosed as neonates with hypoxic-ischemic encephalopathy and 14 cases (24.6%) were diagnosed as neonatal ones within 1 month to 1 year old. Nine cases ( 15.8%) developed from 1 year old to preschool age, with mental motor regression as the main manifestation. Eighteen cases (31.6%) were diagnosed from 6 to 15 years old. Seven of them were complicated with multiple organ damage such as liver, kidney and peripheral nerves. Three cases (5.3%) at 16,24,34-year-old showed progressive mental retardation and other disorders. Eleven patients (19.3%) died in 57 patients. Forty-six patients (80.7%) received vitamin B 12, folic acid, L-carnitine and betaine supplementation, which gradually improved and 11 patients (19.3%) recovered completely. Conclusions Methylmalonic aciduria with homocysteinemia is a common type of Chinese patients with methylmalonic aciduria. Patients vary greatly in individuality, and may develop in various stages from neonatal to adulthood. It is difficult to diagnose the disease. For patients with methylmalonic aciduria should be plasma, urine total homocysteine determination, differential diagnosis, reasonable treatment.