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Partial Biotinidase Deficiency Revealed Imbalances in Acylcarnitines Profile at Tandem Mass Spectrometry Newborn Screening

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 ace...

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Autores principales: Cicalini, Ilaria, Pieragostino, Damiana, Rizzo, Cristiano, Verrocchio, Sara, Semeraro, Daniela, Zucchelli, Mirco, Di Michele, Silvia, Dionisi-Vici, Carlo, Stuppia, Liborio, De Laurenzi, Vincenzo, Bucci, Ines, Rossi, Claudia
Formato: Online Artículo Texto
Lenguaje:English
Publicado: MDPI 2021
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Acceso en línea:https://www.ncbi.nlm.nih.gov/pmc/articles/PMC7916230/
https://www.ncbi.nlm.nih.gov/pubmed/33572391
http://dx.doi.org/10.3390/ijerph18041659
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author Cicalini, Ilaria
Pieragostino, Damiana
Rizzo, Cristiano
Verrocchio, Sara
Semeraro, Daniela
Zucchelli, Mirco
Di Michele, Silvia
Dionisi-Vici, Carlo
Stuppia, Liborio
De Laurenzi, Vincenzo
Bucci, Ines
Rossi, Claudia
author_facet Cicalini, Ilaria
Pieragostino, Damiana
Rizzo, Cristiano
Verrocchio, Sara
Semeraro, Daniela
Zucchelli, Mirco
Di Michele, Silvia
Dionisi-Vici, Carlo
Stuppia, Liborio
De Laurenzi, Vincenzo
Bucci, Ines
Rossi, Claudia
author_sort Cicalini, Ilaria
collection PubMed
description 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.
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spelling pubmed-79162302021-03-01 Partial Biotinidase Deficiency Revealed Imbalances in Acylcarnitines Profile at Tandem Mass Spectrometry Newborn Screening Cicalini, Ilaria Pieragostino, Damiana Rizzo, Cristiano Verrocchio, Sara Semeraro, Daniela Zucchelli, Mirco Di Michele, Silvia Dionisi-Vici, Carlo Stuppia, Liborio De Laurenzi, Vincenzo Bucci, Ines Rossi, Claudia Int J Environ Res Public Health Case Report 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. MDPI 2021-02-09 2021-02 /pmc/articles/PMC7916230/ /pubmed/33572391 http://dx.doi.org/10.3390/ijerph18041659 Text en © 2021 by the authors. Licensee MDPI, Basel, Switzerland. This article is an open access article distributed under the terms and conditions of the Creative Commons Attribution (CC BY) license (http://creativecommons.org/licenses/by/4.0/).
spellingShingle Case Report
Cicalini, Ilaria
Pieragostino, Damiana
Rizzo, Cristiano
Verrocchio, Sara
Semeraro, Daniela
Zucchelli, Mirco
Di Michele, Silvia
Dionisi-Vici, Carlo
Stuppia, Liborio
De Laurenzi, Vincenzo
Bucci, Ines
Rossi, Claudia
Partial Biotinidase Deficiency Revealed Imbalances in Acylcarnitines Profile at Tandem Mass Spectrometry Newborn Screening
title Partial Biotinidase Deficiency Revealed Imbalances in Acylcarnitines Profile at Tandem Mass Spectrometry Newborn Screening
title_full Partial Biotinidase Deficiency Revealed Imbalances in Acylcarnitines Profile at Tandem Mass Spectrometry Newborn Screening
title_fullStr Partial Biotinidase Deficiency Revealed Imbalances in Acylcarnitines Profile at Tandem Mass Spectrometry Newborn Screening
title_full_unstemmed Partial Biotinidase Deficiency Revealed Imbalances in Acylcarnitines Profile at Tandem Mass Spectrometry Newborn Screening
title_short Partial Biotinidase Deficiency Revealed Imbalances in Acylcarnitines Profile at Tandem Mass Spectrometry Newborn Screening
title_sort partial biotinidase deficiency revealed imbalances in acylcarnitines profile at tandem mass spectrometry newborn screening
topic Case Report
url https://www.ncbi.nlm.nih.gov/pmc/articles/PMC7916230/
https://www.ncbi.nlm.nih.gov/pubmed/33572391
http://dx.doi.org/10.3390/ijerph18041659
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