Медицинская библиотека · Zhonghua nei ke za zhi · 2008

[A clinical analysis of methylmalonic acidemia in adolescents].

Ye Jing, Li Cun-Jiang, Liu Jiang-Hong

Аннотация на английскомСтатьяПеревод пока не подготовлен

Аннотация

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.

Для цитирования: Ye Jing, Li Cun-Jiang, Liu Jiang-Hong. [A clinical analysis of methylmalonic acidemia in adolescents].. Zhonghua nei ke za zhi. 2008.

Предметные рубрики MeSH

Adolescent Age of Onset Female Humans Male Metabolism, Inborn Errors Methylmalonic Acid

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