Special Issue "Maternal Defects during Pregnancy and Other Influences on Metabolic Profile by Newborn Screening"

A special issue of International Journal of Environmental Research and Public Health (ISSN 1660-4601). This special issue belongs to the section "Women's Health".

Deadline for manuscript submissions: 30 June 2022.

Special Issue Editors

Dr. Claudia Rossi
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Leading Guest Editor
Department of Medicine and Aging Science, Analytical Biochemistry and Proteomics Unit, Center for Advanced Studies and Technology (CAST),“G. d’Annunzio” University of Chieti-Pescara, 66100 Chieti, Itay
Interests: mass spectrometry; metabolomics; proteomics; omics profiling; inborn errors of metabolism; biomarkers
Dr. Ilaria Cicalini
E-Mail Website
Assistant Guest Editor
Department of Medicine and Aging Science, Analytical Biochemistry and Proteomics Unit, Center for Advanced Studies and Technology (CAST),“G. d’Annunzio” University of Chieti-Pescara, 66100 Chieti, Itay
Interests: proteomics; metabolomics; LC-MS/MS; bioanalytical mass spectrometry; lipidomics
Special Issues, Collections and Topics in MDPI journals
Dr. Cristiano Rizzo
E-Mail Website
Assistant Guest Editor
Department of Mebolism, Laboratory of Metabolism, Bambino Gesù Children’s Hospital, 00146 Rome, Italy
Interests: inborn errors of metabolism; metabolomics; lipids; biomarkers; mass spectrometry; chromatography

Special Issue Information

Dear Colleagues,

The advent of expanded newborn screening (NBS) has not only improved the diagnosis of metabolic disorders in a pre-symptomatic or early symptomatic period, but also the detection of potentially affected family members and of patients with mild or later onset inborn errors of metabolism (IEMs). Recently, this point has shifted the attention on the management of IEMs in adulthood, representing a growing field in adult medicine. In particular, the impact of pregnancy in women with metabolic disorders is of great interest. It is well known that unrecognized metabolic diseases still are a preventable cause of maternal and neonatal morbidity and mortality, while, when for a woman the diagnosis of inherited metabolic disorder (IMD) is known, outcomes are most favorable. However, even though pregnancies in women carrying different metabolic disorders have been described, data are still extremely limited.

This Issue will have a broad focus on the management of IEMs in adulthood as well as of pregnancy in women with a diagnosed metabolic disease. Moreover, since different cases of newborns with altered metabolic profiling at NBS have been reported for asymptomatic mothers with a IEM or mothers affected by undiagnosed mild variant of metabolic disorders, the detection of maternal deficiencies is considered a complicating factor in MS/MS NBS. Considering that metabolic findings and alterations at NBS may be influenced not only by genome, but also by other factors such as partial enzyme deficiencies, prematurity, therapies, and nutritional deficiency, other than maternal conditions, this Special Issue also seeks research papers on all the other factors as NBS unintended consequences that may impact neonatal metabolic profile.

Dr. Claudia Rossi
Dr. Ilaria Cicalini
Dr. Cristiano Rizzo
Guest Editors

Manuscript Submission Information

Manuscripts should be submitted online at www.mdpi.com by registering and logging in to this website. Once you are registered, click here to go to the submission form. Manuscripts can be submitted until the deadline. All papers will be peer-reviewed. Accepted papers will be published continuously in the journal (as soon as accepted) and will be listed together on the special issue website. Research articles, review articles as well as short communications are invited. For planned papers, a title and short abstract (about 100 words) can be sent to the Editorial Office for announcement on this website.

Submitted manuscripts should not have been published previously, nor be under consideration for publication elsewhere (except conference proceedings papers). All manuscripts are thoroughly refereed through a single-blind peer-review process. A guide for authors and other relevant information for submission of manuscripts is available on the Instructions for Authors page. International Journal of Environmental Research and Public Health is an international peer-reviewed open access semimonthly journal published by MDPI.

Please visit the Instructions for Authors page before submitting a manuscript. The Article Processing Charge (APC) for publication in this open access journal is 2300 CHF (Swiss Francs). Submitted papers should be well formatted and use good English. Authors may use MDPI's English editing service prior to publication or during author revisions.

Keywords

  • inborn errors of metabolism
  • maternal defects
  • newborn screening, metabolic profiling
  • pregnancy

Published Papers (1 paper)

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Case Report
Partial Biotinidase Deficiency Revealed Imbalances in Acylcarnitines Profile at Tandem Mass Spectrometry Newborn Screening
Int. J. Environ. Res. Public Health 2021, 18(4), 1659; https://0-doi-org.brum.beds.ac.uk/10.3390/ijerph18041659 - 09 Feb 2021
Viewed by 912
Abstract
Biotinidase (BTD) deficiency is an autosomal recessive inherited neurocutaneous disorder. BTD recycles the vitamin biotin, a coenzyme essential for the function of four biotin-dependent carboxylases, including propionyl-CoA carboxylase, 3-methylcrotonyl-CoA carboxylase, pyruvate carboxylase, and acetyl-CoA carboxylase. Due to deficient activities of the carboxylases, BTD [...] Read more.
Biotinidase (BTD) deficiency is an autosomal recessive inherited neurocutaneous disorder. BTD recycles the vitamin biotin, a coenzyme essential for the function of four biotin-dependent carboxylases, including propionyl-CoA carboxylase, 3-methylcrotonyl-CoA carboxylase, pyruvate carboxylase, and acetyl-CoA carboxylase. Due to deficient activities of the carboxylases, BTD deficiency is also recognized as late-onset multiple carboxylase deficiency and is associated with secondary alterations in the metabolism of amino acids, carbohydrates, and fatty acids. BTD deficiency can be classified as “profound”, with less than 10% of mean normal activity, and as “partial” with 10–30% of mean normal activity. Newborn screening (NBS) of BTD deficiency is performed in most countries and is able to detect both variants. Moreover, mild metabolic alterations related to carboxylase deficiency in profound BTD deficiency could result and possibly be revealed in the metabolic profile by tandem mass spectrometry (MS/MS) NBS. Here, we report the case of a newborn female infant with an initial suspected BTD deficiency at the NBS test, finally confirmed as a partial variant by molecular testing. Although BTD deficiency was partial, interestingly her metabolic profile at birth and during the follow-up tests revealed, for the first time, alterations in specific acylcarnitines as a possible result of the deficient activity of biotin-dependent carboxylases. Full article
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