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1、 维生素 B12无效型甲基丙二酸血症 1 例报告并 220 例文献复习郝 磊 吴秋珍 王怀立 赵明刚 吴恒作者单位:467400 河南省宝丰县人民医院儿科 (郝磊 吴秋珍 赵明刚 吴恒);郑州大学第一附属医院 PICU （王怀立）作者简介：郝 磊（1 9 7 0 10 - 29） ，男，主治医师。研究方向：小儿神经系统疾病的诊断与治疗。E-mail:.摘要 目的 探讨维生素 B12 无效型甲基丙二酸血症的临床特点及研究进展。 方法 报道本院诊断的维生素 B12无效型甲基丙二酸血症 1 例，总结分析国内外报道 220 例的临床特点，研究进展进行文献复习。结果 (1)自诊患儿存在明显体重增长缓慢、
2、生长发育落后，腹泻，肢体抖动、肌张力异常，大理石样皮肤。维生素 B121mg/d 静注，连用 5 天，复查血高效液相色谱-串联质谱法及尿气相色谱-质谱法证实无效。 （2）国内文献报道 160 例中单独型甲基丙二酸血症 29 例（18.1%） ，甲基丙二酸血症合并同型半胱氨酸血症 131 例（81.9%） 。148 例(92.5%)于 1 个月8 岁 5 个月（平均为 1 岁 1 个月获得确诊） 。 1（3）国内文献报道 14 例中男 4 例,女 10 例,发病年龄自出生9 岁,生后 1 个月内发病者 7 例(50%),1 岁以内发病者共 10 例(71%)。3 例在确诊前死亡 ,11 例确诊患
3、儿中 10 例接受维生素 B12(VitB12)治疗,辅以低蛋白饮食及左旋肉碱治疗.对治疗的 7 例进行 3 个月1 年 6 个月(平均 8.5 个月)的随访,1 例临床症状完全消失,4 例明显好转,2 例死于严重代谢性酸中毒。 2（4）国内文献报道总结国内外 45 例甲基丙二酸血症患儿的临床症状和实验室检查情况,分析其诊治及转归情况、结果，对有不明原因酸中毒,意识障碍,惊厥,肌张力低下以及体格及智力发育落后甚至倒退的患儿应引起高度重视,血尿气相色谱/质谱联用分析(GC/MS)可确诊该病,该病的治疗可分为维生素 B12(VB12)有效型及无效型两类,维生素 B12 有效型可采用 VB12 注射
4、及限制饮食的方法进行干预;对维生素 B12 无效型患者采取饮食限制的方法加以干预 ,晚期肾功能衰竭行肝肾移植可改善此类患儿预后,但不确定是否能改善远期预后。 3 结论：维生素B12(VB12)无效型,以低蛋白饮食治疗为主， VB12 有效型以 VB12 为主,辅以低蛋白饮食.经治疗后，血高效液相色谱-串联质谱法及尿气相色谱-质谱法对本症有确诊意义,早期发现、合理治疗可有效地改善预后。关键词 甲基丙二酸血症; 维生素 B12 ; 综述文献（主题）Vitamin B12 invalid type methyl propylene acidemia 1 case report and literat
5、ure review 219 casesHAO lei WU Qiu Zhen WANG Huai Li ZHAO Ming Gang WU Heng。The author units: 467400， Bao Feng Xian henan province peoples hospital of pediatricsCommunication author: hao lei (E-mail:)。Abstract objective to explore the vitamin B12 invalid type methyl propylene acidemia clinical chara
6、cteristics and research progress. Methods reported the diagnosis of vitamin B12 invalid type methyl propylene acidaemia in 1, summarizes and analyzes reported at home and abroad of 220cases of clinical characteristics, research progress of literature review.Results (1) self diagnostics with obvious
7、weight slow growth, growth backward, diarrhea, limb jitter, muscle tension anomaly, marble sample skin. Vitamin B121mg/d static note, post in the 5 days, review blood high performance liquid chromatography (HPLC) - tandem mass spectrometry, urine gas chromatography - mass spectrometry confirmed inva
8、lid. (2) the domestic literature reported 160 cases of separate type methyl propylene acidemia 29 patients (18.1%), methyl propylene acidemia merger homocysteine acidosis 131 cases (81.9%). 148 patients (92.5%) in 1 months 8 years old five months (average for 1-1 month get diagnose).(3) 14 cases rep
9、orted in the literature to domestic the male in 4 cases, 10 cases of female, age of onset since birth 9 years old, born within one month after onset in 7 patients (50%), within 1 year old workers on a total of 10 cases (71%). 3 cases were diagnosed in before death, 11 cases were diagnosed in 10 case
10、s of children accept vitamin B12 (VitB12) treatment, with low protein diet and l-carnitine treatment. For the management of 7 cases of 3 months 1 year 6 months (mean 8.5 months) of follow-up, 1 cases of clinical symptoms disappear completely, 4 cases were improved obviously, 2 cases died of serious
11、metabolic acidosis.(4) the domestic literature summarize domestic and 45 cases of methyl propylene acidemia the patients clinical symptoms and laboratory examination situation, analyzes the diagnosis, treatment and outcome, as a result, for unknown reasons acidosis, disturbance of consciousness, con
12、vulsion, muscle tension is low, and physical and mental development of children behind even retrogressive should be attached, hematuria gas chromatography/mass spectrometry (GC/MS) analysis can be diagnosed the disease, the treatment of the disease can be divided into vitamin B12 (VB12) effective ty
13、pe and invalid type two kinds, vitamin B12 effective type can be used VB12 injection and the method of restricted diet intervention; To vitamin B12 invalid type patients take dietary restriction methods to intervention, advanced renal failure line hepatorenal transplantation can improve prognosis su
14、ch children, but not sure whether can improve the long-term prognosis.Conclusion: vitamin B12 (VB12) invalid type, low protein diet therapy is given priority to, VB12 effective type to VB12 give priority to, complementary with low protein diet. The after treatment, blood high performance liquid chro
15、matography (HPLC) - tandem mass spectrometry, urine gas chromatography - mass spectrometry have this disease diagnosis significance, early detection, reasonable treatment can effectively improve the prognosis.key words methyl propylene acidemia; Vitamin B12; Review the literature (subject)甲基丙二酸血症是一种
16、常见的有机酸血症,属于常染色体隐性遗传病,是先天有机酸代谢异常中最常见的病种,是多种原因所致体内甲基丙二酸蓄积的总称 ,于1967年首次由 O b e r h o l z e r 和 S t o k k e 报道 。美国发病率约为 1 /48 000 , 加拿大为 1 /61 0 0 0 ，日本发病率为1/50 000，意大利1/61775，我国台湾1/85 000，中国大陆地区尚无流行病学资料，但是，各地高危筛查资料显示，甲基丙二酸血症是我国有机酸尿症最常见的类型 4，5，6 。 主要临床表现为神经系统功能障碍以及酸碱平衡紊乱、多脏器功能损伤等,并呈进行性加重趋势,重型患者病死率极高。近年来，其病因、诊断、治疗与遗传学机制逐步明确，随着质谱分析技术的普及，本症的流行病学资料亦不断更新 7。 依靠串联质谱检测血中的酰基肉碱和气相色谱-质谱检测尿甲基丙二酸可以确诊。对伴有同型半胱氨
