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目的探讨甲基丙二酸血症的临床特征及治疗。方法对本院通过气相色谱-质谱法尿有机酸分析确诊甲基丙二酸血症的患儿16例进行临床特征及诊疗分析。结果本院16例患儿的发病年龄为出生5 d～2岁,临床表现包括呕吐、喂养困难6例,发育落后/倒退6例,反应差5例,惊厥发作1例等。血气分析提示代谢性酸中毒8例,高血氨1例,11例头颅CT或MRI出现异常,2例视觉诱发电位均异常,3例查听觉脑干诱发电位2例异常。16例查尿有机酸均提示甲基丙二酸增高。2例确诊前死亡,6例确诊后放弃治疗,7例长期接受维生素B12、左旋肉碱治疗。对于接受治疗者进行随访,随访时间2个月～2 a(平均11个月),均存在发育落后,患儿进行一般神经发育评价,5例较治疗前有明显进步,但均存在发育落后,1例神经发育明显落后,1例治疗时间短,现未复查,1例失访。结论反应差、智力体格发育落后或倒退、惊厥、发作性呕吐、喂养困难、肌张力异常、代谢性酸中毒、高氨血症、头颅MRI出现基底核对称异常信号是甲基丙二酸血症的主要临床特征,不同年龄临床表现不同,气相色谱-质谱法尿有机酸分析是早期诊断的重要依据,确诊后坚持长期合理治疗是改善预后的有效方法。
Objective To investigate the clinical features and treatment of methylmalonic acidemia. Methods The clinical features, diagnosis and treatment of 16 cases of children with methylmalonic acidemia diagnosed by gas chromatography-mass spectrometry urine organic acid analysis in our hospital were analyzed. Results The age of onset of 16 cases in our hospital ranged from 5 days to 2 years old. The clinical manifestations include vomiting, feeding difficulties in 6 cases, lag / regression in 6 cases, poor response in 5 cases and convulsions in 1 case. Blood gas analysis showed metabolic acidosis in 8 cases, hypercholesterolemia in 1 case, skull CT or MRI abnormalities in 11 cases, abnormal visual evoked potential in 2 cases and abnormal auditory brainstem response in 3 cases. Urinary organic acids were detected in 16 cases of elevated methylmalonic acid. 2 died before diagnosis, 6 patients gave up treatment after diagnosis, 7 patients received long-term vitamin B12, L-carnitine treatment. For the follow-up of treatment, the follow-up time ranged from 2 months to 2 years (mean, 11 months), all had developmental lag. Children had general neurodevelopment evaluation. Five cases improved significantly compared with that before treatment, 1 case of neurological development was significantly behind, 1 case of treatment time is short, no review, 1 case lost. Conclusions Poor response, backward or regressive mental physical development, convulsions, vomiting, feeding difficulties, abnormal dystonia, metabolic acidosis, hyperammonemia, head MRI abnormal signals of basal nucleus symmetry is methylmalonic acid The main clinical characteristics of different clinical manifestations at different ages, gas chromatography-mass spectrometry urinary organic acid analysis is an important basis for early diagnosis, diagnosis and adherence to long-term rational treatment is an effective way to improve prognosis.