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  • Title: [A clinical analysis of methylmalonic acidemia in adolescents].
    Author: Ye J, Li CJ, Liu JH.
    Journal: Zhonghua Nei Ke Za Zhi; 2008 Oct; 47(10):823-5. PubMed ID: 19080141.
    Abstract:
    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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