甲基丙二酸血症

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:pdshaolei@.[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、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 literature review 219 casesHAO lei WU Qiu Zhen WANG Huai Li ZHAO Ming Gang WU Heng。

The authorunits: 467400，Bao Feng Xian henan province people's hospital of pediatrics Communication author: hao lei (E-mail:pdshaolei@)。

[Abstract] objective to explore the vitamin B12 invalid type methyl propylene acidemia clinical characteristics 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 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 invalid. (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 reported 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 cases 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 metabolic acidosis.(4) the domestic literature summarize domestic and 45 cases of methyl propylene acidemia the patient's clinical symptoms and laboratory examination situation, analyzes the diagnosis, treatment and outcome, as a result, for unknown reasons acidosis, disturbance of consciousness, convulsion, 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 type and invalid type two kinds, vitamin B12 effective type can be used VB12 injection and the method of restricted dietintervention; To vitamin B12 invalid type patients take dietary restriction methods to intervention, advanced renal failure line hepatorenal transplantation can improve prognosis such 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 chromatography (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。