【摘要】 目的　探讨甲基丙二酸血症的诊断与治疗方法。　方法　对 5例甲基丙二酸血症患儿的临床表现、生化特点、诊疗情况进行分析。　结果　例 1病情最重 ,生后 2 d发病 ,11d死亡。例 2～例 5于生后 1～ 3个月发病 ,因惊厥、肌张力低下、智力发育落后等神经系统损害来院就诊。气相色谱 /质谱联用分析 (GC/ MS)显示 5例患儿尿甲基丙二酸浓度明显增高。例 2为维生素 B1 2 (VB1 2 )无效型 ,以低蛋白饮食治疗为主。例 3～例 5为 VB1 2 有效型 ,治疗以 VB1 2 为主 ,辅以低蛋白饮食。经治疗后 ,4例患儿临床症状明显改善 ,智力发育进步显著。　结论　 GC/ MS尿有机酸分析对本症有确诊意义 ,早期发现、合理治疗可有效地改善预后。更多还原

【Abstract】 Objective To investigate the diagnosis and management of methylmalonic aciduria. Methods The clinical course, laboratory examination, treatment and outcome of 5 patients with methylmalonic aciduria detected by gas chromatography/mass spectrometry (GC/MS) were analyzed. Results Patient No.1 showed severe symptoms from the age of 2 days, and died at his age of 11 days. Patients No.2～5 were defined by seizures, mental development delay, hypotonia and other neurological abnormalities shown from their age of 1～3 months. Remarkable elevation of urinary methylmalonic acid concentration was confirmed in all of them. After diagnosis, patient No.2 who was vitamin B 12 unresponsive was treated by low protein diet. In patients No.3~5 who were vitamin B 12 responsive,vitamin B 12 was given 1 mg weekly, and protein restricted diet was also initiated. After 5~9 months treatment, a better clinical condition and a significant improvement of mental development was observed. Conclusion GC/MS is a very important method in diagnosing methylmalonic aciduria. Early diagnosis and adequate treatment contributes a lot to improve the mental prognosis of the patients.更多还原