2017
DOI: 10.3390/ijns3010005
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A Rare Case of Malonic Aciduria Diagnosed by Newborn Screening in Qatar

Abstract: Malonic aciduria is a rare autosomal recessive organic acid disorder. With the widespread use of tandem mass spectrometry for analysis of the amino acid/acylcarnitine profile on dried blood spots for newborn screening (NBS), this condition can be readily diagnosed and can be included in the organic acid screen in NBS programs. In Qatar, we report the first case of an asymptomatic baby screened and diagnosed with malonic aciduria through NBS. This patient has a genetic variant of malonyl-CoA decarboxylase that … Show more

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“…IEAAM has been neglected over the years in Iran, like many other developing countries, since although collectively common, they are individually unusual [1,2]. Due to advances in medical technology, characterization of human genome, and expanded newborn screening (NBS) programs using tandem mass spectrometry (MS/MS), IEAAM are nowadays more often detected [3][4][5].…”
Section: Introductionmentioning
confidence: 99%
“…IEAAM has been neglected over the years in Iran, like many other developing countries, since although collectively common, they are individually unusual [1,2]. Due to advances in medical technology, characterization of human genome, and expanded newborn screening (NBS) programs using tandem mass spectrometry (MS/MS), IEAAM are nowadays more often detected [3][4][5].…”
Section: Introductionmentioning
confidence: 99%