A Rare Case of Malonic Aciduria Diagnosed by Newborn Screening in Qatar

A Rare Case of Malonic Aciduria Diagnosed by Newborn Screening in Qatar

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...

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Bibliographic Details
Main Authors: Mamatha Ramaswamy, Victor Anthony Skrinska, Ghassan Abdoh, Laila Mahmoud Ahmed, Rola Fayez Mitri, Ravi Joshi
Format: Article
Language:English
Published: MDPI AG 2017-03-01
Series:International Journal of Neonatal Screening
Subjects:
malonic aciduria
malonyl-CoA decarboxylase
MLYCD
newborn screening
malonic acid
methylmalonic acid
MCD
malonylcarnitine
C3DC
Online Access:http://www.mdpi.com/2409-515X/3/1/5

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