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Open AccessCase Report

A False-Positive Case of Methylmalonic Aciduria by Tandem Mass Spectrometry Newborn Screening Dependent on Maternal Malnutrition in Pregnancy

1
Center for Advanced Studies and Technology (CAST), University “G. d’Annunzio” of Chieti-Pescara, 66100 Chieti, Italy
2
Department of Medicine and Aging Science, University “G. d’Annunzio” of Chieti-Pescara, 66100 Chieti, Italy
3
Metabolic Diseases Unit, Bambino Gesù Children Hospital and Research Institute, 00165 Rome, Italy
4
Department of Medical, Oral and Biotechnological Sciences, University “G. d’Annunzio” of Chieti-Pescara, 66100 Chieti, Italy
5
Department of Pharmacy, University “G. d’Annunzio” of Chieti-Pescara, 66100 Chieti, Italy
6
Neonatal Intensive Care Unit, University “G. d’Annunzio” of Chieti-Pescara, 66100 Chieti, Italy
*
Author to whom correspondence should be addressed.
Int. J. Environ. Res. Public Health 2020, 17(10), 3601; https://doi.org/10.3390/ijerph17103601
Received: 27 April 2020 / Revised: 16 May 2020 / Accepted: 17 May 2020 / Published: 20 May 2020
(This article belongs to the Special Issue Maternal and Early-Life Nutrition and Health)
Methylmalonic Acidurias (MMAs) are a group of inborn errors of metabolism (IEMs), specifically of propionate catabolism characterized by gastrointestinal and neurometabolic manifestations resulting from a deficiency in the function of methylmalonyl-CoA mutase, methylmalonyl-CoA epimerase, and cobalamin metabolism. In Expanded Newborn Screening (NBS), increased levels of propionylcarnitine (C3) and/or of its ratios by MS/MS analysis of dried blood spots (DBS) samples are suggestive for either Propionic Acidemia or MMAs. C3 elevation is not considered a specific marker for these disorders, resulting in high false-positive rates. The use of analyte ratios improves specificity, but it still cannot resolve the diagnostic issue. Second-tier testing are strongly recommended as confirmation of primary NBS results and for a differential diagnosis. LC-MS/MS analysis allows the quantification of more specific markers of the disorder. Here, we report the case of a newborn with a suspected MMA at Expanded NBS and at second-tier test. Given the urgent situation, in-depth diagnostic investigations were performed. Further investigations surprisingly revealed a Vitamin B12 deficiency due to a maternal malnutrition during pregnancy. This case emphasized that metabolic alterations at NBS may not only be influenced by genome and related to IEMs, but also to external factors and to maternal conditions. View Full-Text
Keywords: organic acidemias; newborn screening; methylmalonic acidemia; false-positive; mass spectrometry; vitamin B12 deficiency; LC-MS/MS; maternal defects organic acidemias; newborn screening; methylmalonic acidemia; false-positive; mass spectrometry; vitamin B12 deficiency; LC-MS/MS; maternal defects
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Rossi, C.; Cicalini, I.; Rizzo, C.; Zucchelli, M.; Consalvo, A.; Valentinuzzi, S.; Semeraro, D.; Gasparroni, G.; Brindisino, P.; Gazzolo, D.; Dionisi-Vici, C.; De Laurenzi, V.; Pieragostino, D. A False-Positive Case of Methylmalonic Aciduria by Tandem Mass Spectrometry Newborn Screening Dependent on Maternal Malnutrition in Pregnancy. Int. J. Environ. Res. Public Health 2020, 17, 3601.

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