Update of methylmalonicacidemia in incidence,diagnosis,treatment and prognosis

GE Juan; QIAO Ling-yan; LI Tang

doi:10.11852/zgetbjzz2017-25-03-13

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Chinese Journal of Child Health Care ›› 2017, Vol. 25 ›› Issue (3) : 258-260. DOI: 10.11852/zgetbjzz2017-25-03-13

Update of methylmalonicacidemia in incidence,diagnosis,treatment and prognosis

GE Juan¹,QIAO Ling-yan²,LI Tang²

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Abstract

Methylmalonicacidemia is the most common disease of organic acid disorder.It often leads to impairment of central nerve system,metabolic disorder,poor growth,organ dysfunction and so on.Methylmalonicacidemia has high rate of death and disability which does tremendous harm for affected children.In recent years,as the rapid development of tandem mass spectrometry,gaschromatography-mass spectrometry,and gene testing technology,screening for inborn errors of metabolism is widespread.This increases the detection rate of the disease and diagnoses certain presymptomatic patients.Therefore,kids suffering from methylmalonicacidemia have advantages in diagnosis and treatment at early time which improves their prognosis obviously.This paper is a review of update of methylmalonicacidemia.

Key words

methylmalonicacidemia / tandem mass spectrometry / asymptomatic methylmalonicacidemia / prognosis

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GE Juan,QIAO Ling-yan,LI Tang. Update of methylmalonicacidemia in incidence,diagnosis,treatment and prognosis[J]. Chinese Journal of Child Health Care. 2017, 25(3): 258-260 https://doi.org/10.11852/zgetbjzz2017-25-03-13

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