Progress in the treatment of inborn errors of metabolisms

ZHANG Yao

doi:10.11852/zgetbjzz2020-0873

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Chinese Journal of Child Health Care ›› 2020, Vol. 28 ›› Issue (7) : 721-724. DOI: 10.11852/zgetbjzz2020-0873

Progress in the treatment of inborn errors of metabolisms

ZHANG Yao

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Abstract

Inborn errors of metabolisms (IEMs) are a group of single-gene genetic diseases,characterized by abnormal metabolic pathways.With the popularization of neonatal metabolic screening,more and more IEMs are diagnosed and treated in time.According to the pathogenesis of IEMs,the treatment includes the reduction of substrates,removal of toxic metabolites,enzyme replacement therapy,enhancement of enzyme activity,cell or organ transplantation,and gene therapy.Therefore,many IEMs have been improved or even cured.However,some therapies are still in the stage of research,and more effective treatments are warranted.Prenatal diagnosis is an effective method to prevent IEMs.

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inborn errors of metabolisms / single-gene genetic disease / material metabolism

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ZHANG Yao. Progress in the treatment of inborn errors of metabolisms[J]. Chinese Journal of Child Health Care. 2020, 28(7): 721-724 https://doi.org/10.11852/zgetbjzz2020-0873

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