A clinical analysis of methylmalonic addenda in adolescents
- VernacularTitle:青少年发病的甲基丙二酸血症临床分析
- Author:
Jing YE
;
Cunjiang LI
;
Jianghong LIU
;
Xiangbo WANG
;
Yuwei DA
;
Haiqing SONG
- Publication Type:Journal Article
- Keywords:
Methylmalonic acid;
Adolescence;
Research
- From:
Chinese Journal of Internal Medicine
2008;47(10):823-825
- CountryChina
- Language:Chinese
-
Abstract:
Objective To investigate the clinical characteristics of methylmalonic academia in adolescence cases. Methods 4 cases were diagnosed methylmalonic academia by gas chromatography- masss pectrogram 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 hypopsia 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.
