[A clinical analysis of methylmalonic acidemia in adolescents].
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.
Ye
Jing
J
Department of Neurology, Xuanwu Hospital, Capital Medical University, Beijing 100053, China.
Li
Cun-Jiang
CJ
Liu
Jiang-Hong
JH
D000293:Adolescent; D017668:Age of Onset; D005260:Female; D006801:Humans; D008297:Male; D008661:Metabolism, Inborn Errors / Q000175:diagnosis* / Q000453:epidemiology; D008764:Methylmalonic Acid / Q000097:blood*
D008764:Methylmalonic Acid