A clinical analysis of methylmalonic acidemia in adolescents
Ye, J.; Li, C.-J.; Liu, J.-H.
Zhonghua Nei Ke Za Zhi 47(10): 823-825
2008
ISSN/ISBN: 0578-1426 PMID: 19080141 Document Number: 620422
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.