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

Author

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  • Ilaria Cicalini

    (Center for Advanced Studies and Technology (CAST), University “G. d’Annunzio” of Chieti-Pescara, 66100 Chieti, Italy
    Department of Medicine and Aging Science, University “G. d’Annunzio” of Chieti-Pescara, 66100 Chieti, Italy)

  • Damiana Pieragostino

    (Center for Advanced Studies and Technology (CAST), University “G. d’Annunzio” of Chieti-Pescara, 66100 Chieti, Italy
    Department of Innovative Technologies in Medicine & Dentistry, University ‘‘G. d’Annunzio’’ of Chieti-Pescara, 66100 Chieti, Italy)

  • Cristiano Rizzo

    (Metabolic Diseases Unit, Bambino Gesù Children Hospital and Research Institute, 00165 Rome, Italy)

  • Sara Verrocchio

    (Center for Advanced Studies and Technology (CAST), University “G. d’Annunzio” of Chieti-Pescara, 66100 Chieti, Italy
    Department of Medicine and Aging Science, University “G. d’Annunzio” of Chieti-Pescara, 66100 Chieti, Italy)

  • Daniela Semeraro

    (Center for Advanced Studies and Technology (CAST), University “G. d’Annunzio” of Chieti-Pescara, 66100 Chieti, Italy
    Department of Medicine and Aging Science, University “G. d’Annunzio” of Chieti-Pescara, 66100 Chieti, Italy)

  • Mirco Zucchelli

    (Center for Advanced Studies and Technology (CAST), University “G. d’Annunzio” of Chieti-Pescara, 66100 Chieti, Italy
    Department of Innovative Technologies in Medicine & Dentistry, University ‘‘G. d’Annunzio’’ of Chieti-Pescara, 66100 Chieti, Italy)

  • Silvia Di Michele

    (Department of Pediatrics, “Spirito Santo” Hospital, 65100 Pescara, Italy)

  • Carlo Dionisi-Vici

    (Metabolic Diseases Unit, Bambino Gesù Children Hospital and Research Institute, 00165 Rome, Italy)

  • Liborio Stuppia

    (Center for Advanced Studies and Technology (CAST), University “G. d’Annunzio” of Chieti-Pescara, 66100 Chieti, Italy
    Department of Psychological, Health and Territory Sciences, School of Medicine and Health Sciences, “G. d’Annunzio” University, 66100 Chieti, Italy)

  • Vincenzo De Laurenzi

    (Center for Advanced Studies and Technology (CAST), University “G. d’Annunzio” of Chieti-Pescara, 66100 Chieti, Italy
    Department of Innovative Technologies in Medicine & Dentistry, University ‘‘G. d’Annunzio’’ of Chieti-Pescara, 66100 Chieti, Italy)

  • Ines Bucci

    (Center for Advanced Studies and Technology (CAST), University “G. d’Annunzio” of Chieti-Pescara, 66100 Chieti, Italy
    Department of Medicine and Aging Science, University “G. d’Annunzio” of Chieti-Pescara, 66100 Chieti, Italy)

  • Claudia Rossi

    (Center for Advanced Studies and Technology (CAST), University “G. d’Annunzio” of Chieti-Pescara, 66100 Chieti, Italy
    Department of Psychological, Health and Territory Sciences, School of Medicine and Health Sciences, “G. d’Annunzio” University, 66100 Chieti, Italy)

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 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.

Suggested Citation

  • Ilaria Cicalini & Damiana Pieragostino & Cristiano Rizzo & Sara Verrocchio & Daniela Semeraro & Mirco Zucchelli & Silvia Di Michele & Carlo Dionisi-Vici & Liborio Stuppia & Vincenzo De Laurenzi & Ines, 2021. "Partial Biotinidase Deficiency Revealed Imbalances in Acylcarnitines Profile at Tandem Mass Spectrometry Newborn Screening," IJERPH, MDPI, vol. 18(4), pages 1-10, February.
  • Handle: RePEc:gam:jijerp:v:18:y:2021:i:4:p:1659-:d:496541
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    References listed on IDEAS

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    1. Claudia Rossi & Ilaria Cicalini & Cristiano Rizzo & Mirco Zucchelli & Ada Consalvo & Silvia Valentinuzzi & Daniela Semeraro & Giorgia Gasparroni & Patrizia Brindisino & Diego Gazzolo & Carlo Dionisi-V, 2020. "A False-Positive Case of Methylmalonic Aciduria by Tandem Mass Spectrometry Newborn Screening Dependent on Maternal Malnutrition in Pregnancy," IJERPH, MDPI, vol. 17(10), pages 1-10, May.
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    Cited by:

    1. Daniela Semeraro & Sara Verrocchio & Giulia Di Dalmazi & Claudia Rossi & Damiana Pieragostino & Ilaria Cicalini & Rossella Ferrante & Silvia Di Michele & Liborio Stuppia & Cristiano Rizzo & Francesca , 2022. "High Incidence of Partial Biotinidase Deficiency in the First 3 Years of a Regional Newborn Screening Program in Italy," IJERPH, MDPI, vol. 19(13), pages 1-12, July.

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