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

• Main Authors: Mamatha Ramaswamy (Author), Victor Anthony Skrinska (Author), Ghassan Abdoh (Author), Laila Mahmoud Ahmed (Author), Rola Fayez Mitri (Author), Ravi Joshi (Author)
• Format: Book
• Published: MDPI AG, 2017-03-01T00:00:00Z.
• Subjects: article
• Online Access: Connect to this object online.

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...