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[A clinical analysis of methylmalonic acidemia in adolescents]
Jing Ye1, Cun-Jiang Li, Jiang-Hong Liu
1Department of Neurology, Xuanwu Hospital, Capital Medical University, Beijing 100053, China.
Objective:
To investigate the clinical characteristics of methylmalonic academia in adolescence cases.
Methods:
4 cases were diagnosed methylmalonic academia by gas chromatography- mass spectrogram whose clinical, manifestations and treatment process were analyzed.
Results:
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.
Conclusions:
The main clinical characteristics of methylmalonic academia in adolescence were intellect impairment, epilepsy and pyramid signs. The symptoms could be improved after treatment.
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