Progresses of clinical diagnosis and therapy in methylmalonic academia

SUN Ying-mei; LI Wen-jie

doi:10.11852/zgetbjzz2017-25-02-11

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Chinese Journal of Child Health Care ›› 2017, Vol. 25 ›› Issue (2) : 147-150. DOI: 10.11852/zgetbjzz2017-25-02-11

Progresses of clinical diagnosis and therapy in methylmalonic academia

SUN Ying-mei,LI Wen-jie

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Abstract

Methylmalonic acidosis is the most common disease of congenital organic acid metabolic disorders,and it is an autosomal recessive disease.The cinical manifestations of Methylmalonic acidosis is no specific.It is characterized by feeding difficulties,recurrent vomiting and the neurological symptoms such as lethargy,convulsion,movement disorders,and so on.Diagnosis of the disease depends on the measurement of acylcarnitines in the blood by tandem mass spectrometry and the detection of methylmalonic acid in the urine by gas-chromatography mass spectrometry.The vitamin B₁₂-responsive patients with methylmalonic acidemia and homocystinuria should be mainly treated with vitamin B₁₂,L-carnitine and betaine,while the vitamin B₁₂-nonresponsive patients should be treated with protein restriction,the special milk formula without isoleucine,valine,threonine and methionine,as well as the L-carnitine.Compared with the vitamin B₁₂-nonresponsive patients,the vitamin B₁₂-responsive ones have better outcome.

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Methylmalonic acidemia / diagnosis / treatment

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SUN Ying-mei,LI Wen-jie. Progresses of clinical diagnosis and therapy in methylmalonic academia[J]. Chinese Journal of Child Health Care. 2017, 25(2): 147-150 https://doi.org/10.11852/zgetbjzz2017-25-02-11

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