Article
Phenotypic and genotypic analysis of children with methylmalonic academia: A single-center study in China and a recent literature review.
Clinica chimica acta; international journal of clinical chemistry - 1 Nov 2021
Wang Chao, Liu Yang, Zhang Xinjie, Wang Hong, Cui Yaqiong, Zhi Xiufang, Zheng Jie, Wang Ning, Shu Jianbo, Li Dong, Cai Chunquan
Abstract excerpt
BACKGROUND: Methylmalonic acidemia (MMA) is a rare inherited metabolic disease caused by methylmalonyl-CoA deficiency or cobalamin metabolism disorder. It is mainly inherited in autosomal recessive mode. According to whether combined with homocysteinemia and the causative genes, it can be divided into many different subtypes. Early diagnosis and early treatment can significantly improve the prognosis. METHODS:...
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