Newborn Screening for Biotinidase Deficiency. The Experience of a Regional Center in Italy

Frontiers in Pediatrics

article

Alice Maguolo¹  Andrea Pasini²  Natascia Campostrini²  Florina Ion Popa²  Francesca Teofoli¹  Monica Vincenzi²  Marta Camilot¹  Giorgio Piacentini¹  Andrea Bordugo⁴  Giulia Rodella¹  Alice Dianin³  Irene Monge⁴  Martina Messina¹  Erika Rigotti³  Francesca Pellegrini⁵  Grazia Molinaro⁵  Fiorenzo Lupi⁵ 

[1] Department of Mother and Child, University of Verona;Department of Pediatrics, The Regional Center for Neonatal Screening;Pediatric Clinic Azienda Ospedaliera Universitaria Integrata (AOUI) of Verona;Inherited Metabolic Diseases Unit and Regional Centre for Newborn Screening, Azienda Ospedaliera Universitaria Integrata;Neonatal Intensive Care Unit

关键词: biotinidase enzymatic activity;    genotype-phenotype correlation analysis;    biotinidase deficiency incidence;    biotinidase deficiency;    newborn screening;    biotinidase deficiency disorder gene;   

DOI  :  10.3389/fped.2021.661416

学科分类：社会科学、人文和艺术（综合）

来源: Frontiers

【 摘 要 】

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.

【 授权许可】

CC BY