To investigate the clinical characteristics of methylmalonic academia in adolescence cases.
4 cases were diagnosed methylmalonic academia by gas chromatography- mass spectrogram whose clinical, manifestations and treatment process were analyzed.
The main clinical manifestations in 4 cases with methylmalonic academia were intellect impairment, epilepsy, pyramid signs; 2 of them suffered with hypoplasia and optic atrophy, one of them suffered with papilledema. Symptoms were improved after treated with cobamamide and L-carnitine in all the 4 cases 1 months later.
The main clinical characteristics of methylmalonic academia in adolescence were intellect impairment, epilepsy and pyramid signs. The symptoms could be improved after treatment.
语种:
中文
PubmedID:
第一作者:
第一作者机构:[1]100053北京,首都医科大学宣武医院神经内科
通讯作者:
通讯机构:[1]100053北京,首都医科大学宣武医院神经内科
推荐引用方式(GB/T 7714):
叶静,李存江,刘江红,等.A clinical analysis of methylmalonic acidemia in adolescents[J].Zhonghua nei ke za zhi.2008,47(10):823-5.