Maguolo, Alice;
Rodella, Giulia;
Dianin, Alice;
Monge, Irene;
Messina, Martina;
Rigotti, Erika;
Pellegrini, Francesca;
... Bordugo, Andrea; + view all
(2021)
Newborn Screening for Biotinidase Deficiency. The Experience of a Regional Center in Italy.
Frontiers in Pediatrics
, 9
, Article 661416. 10.3389/fped.2021.661416.
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Abstract
INTRODUCTION: Biotinidase deficiency (BD) is an autosomal recessive disease causing a defect in the biotin-releasing enzyme. Newborn screening (NBS) allows early diagnosis and treatment, ensuring excellent prognosis. The aim of this study was to describe our experience in the diagnosis, treatment, and follow-up showing key strategies and unsolved questions of the management of BD patients. METHODS: We analyzed data of patients identified by the Regional Centre for Newborn Screening of Verona and followed by the Inherited Metabolic Disease Unit of Verona and Neonatal Intensive Care Unit of Bolzano, Italy, from 2014 to 2020. RESULTS: Thirty-seven patients were diagnosed by NBS (five profound and 32 partial BD), with a total incidence of 1:5,996. All were started on biotin at diagnosis and presented no symptoms at follow-up. Analysis of parents and siblings led to identification of five asymptomatic patients with partial BD: one asymptomatic parent and four young siblings. Genetic analysis of the BTD gene identified 17 different genotypes and one mutation not previously known. DISCUSSION: Our data confirm that NBS introduction had a dramatic impact on BD diagnosis, and the incidence has increased significantly compared to other areas. Partial defects are more common than profound and have a distinctive genotype. Partial BD treatment is still controversial even at what dose of biotin and for how long. At the end, BD treatment is very easy and inexpensive and prevents severe neurological damage. Sharing experiences is essential to achieving guidelines for treatment and follow-up and a better genotype–phenotype correlation.
Type: | Article |
---|---|
Title: | Newborn Screening for Biotinidase Deficiency. The Experience of a Regional Center in Italy |
Open access status: | An open access version is available from UCL Discovery |
DOI: | 10.3389/fped.2021.661416 |
Publisher version: | https://doi.org/10.3389/fped.2021.661416 |
Language: | English |
Additional information: | © 2021 Maguolo, Rodella, Dianin, Monge, Messina, Rigotti, Pellegrini, Molinaro, Lupi, Pasini, Campostrini, Ion Popa, Teofoli, Vincenzi, Camilot, Piacentini and Bordugo. This is an open-access article distributed under the terms of the Creative Commons Attribution License (CC BY). The use, distribution or reproduction in other forums is permitted, provided the original author(s) and the copyright owner(s) are credited and that the original publication in this journal is cited, in accordance with accepted academic practice. No use, distribution or reproduction is permitted which does not comply with these terms. |
Keywords: | Biotinidase enzymatic activity, genotype-phenotype correlation analysis, biotinidase deficiency incidence, biotinidase deficiency, newborn screening, biotinidase deficiency disorder gene |
UCL classification: | UCL UCL > Provost and Vice Provost Offices > School of Life and Medical Sciences UCL > Provost and Vice Provost Offices > School of Life and Medical Sciences > Faculty of Population Health Sciences > UCL GOS Institute of Child Health UCL > Provost and Vice Provost Offices > School of Life and Medical Sciences > Faculty of Population Health Sciences > UCL GOS Institute of Child Health > Genetics and Genomic Medicine Dept |
URI: | https://discovery.ucl.ac.uk/id/eprint/10189458 |




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