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Int. J. Neonatal Screen. 2017, 3(1), 5; https://doi.org/10.3390/ijns3010005

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

1
Metabolic Laboratory, Department of Pathology and Laboratory Medicine, Hamad Medical Corporation, P.O. Box 3050, Doha, Qatar
2
Newborn Screening Unit, Hamad Medical Corporation, P.O. Box 3050, Doha, Qatar
3
Department of Paediatrics, Hamad Medical Corporation, P.O. Box 3050, Doha, Qatar
*
Author to whom correspondence should be addressed.
Academic Editor: Harvey L. Levy
Received: 30 December 2016 / Revised: 2 March 2017 / Accepted: 3 March 2017 / Published: 9 March 2017
(This article belongs to the Special Issue Newborn Screening-Past, Present and Future)
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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 has not been previously reported in the literature. This condition should be differentiated from a similar disorder, combined malonic and methylmalonic aciduria. The clinical phenotype of malonic aciduria is variable and the pathophysiology is not fully understood. There is no established guidance or recommendations regarding the appropriate treatment regimen, dietary therapy or regular follow-up of these patients. Most available evidence for treatment is based on a single study or case report. View Full-Text
Keywords: malonic aciduria; malonyl-CoA decarboxylase; MLYCD; newborn screening; malonic acid; methylmalonic acid; MCD; malonylcarnitine; C3DC malonic aciduria; malonyl-CoA decarboxylase; MLYCD; newborn screening; malonic acid; methylmalonic acid; MCD; malonylcarnitine; C3DC
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Ramaswamy, M.; Skrinska, V.A.; Abdoh, G.; Mahmoud Ahmed, L.; Mitri, R.F.; Joshi, R. A Rare Case of Malonic Aciduria Diagnosed by Newborn Screening in Qatar. Int. J. Neonatal Screen. 2017, 3, 5.

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