ArticleMolecular genetics and metabolism reports2020
High frequency of biotinidase deficiency in Italian population identified by newborn screening.
Article in Molecular genetics and metabolism reports, 2020. The graph could read no effect estimate from its abstract, so it casts no vote on the map. Cited by 13 papers.
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Who cites it
13 citing papers in PubMed, 21 citations in OpenAlex.
- Biochemical and Clinical Characterization of a Patient with Partial Biotinidase Deficiency Carrying the Rare BTD c.690C>G (p.Phe230Leu) Variant: A Case Report.Life (Basel, Switzerland) · 2026Article
- Characterization of a Novel BTD Hypomorphic Variant in a Patient with Complex Neurodevelopmental Delay: Resolving Actionable Metabolic Vulnerabilities Beyond Borderline Plasma Biochemistry.International journal of molecular sciences · 2026Article
- Article
- Biotin Homeostasis and Human Disorders: Recent Findings and Perspectives.International journal of molecular sciences · 2024Review
- Current Status of Newborn Bloodspot Screening Worldwide 2024: A Comprehensive Review of Recent Activities (2020-2023).International journal of neonatal screening · 2024Review
- A Rare Biotinidase Deficiency in the Pediatrics Population: Genotype-Phenotype Analysis.Journal of pediatric genetics · 2023Review
- Expanded Newborn Screening in Italy Using Tandem Mass Spectrometry: Two Years of National Experience.International journal of neonatal screening · 2022Article
- High Incidence of Partial Biotinidase Deficiency in the First 3 Years of a Regional Newborn Screening Program in Italy.International journal of environmental research and public health · 2022Article
- Inherited metabolic diseases mimicking hereditary spastic paraplegia (HSP): a chance for treatment.Neurogenetics · 2022Review
- Late Onset Subacute Profound Biotinidase Deficiency Caused by a Novel Homozygous Variant c.466-3T>G in the BTD Gene.Indian journal of pediatrics · 2022Article
- Expert consensus on screening, diagnosis and treatment of multiple carboxylase deficiency.Zhejiang da xue xue bao. Yi xue ban = Journal of Zhejiang University. Medical sciences · 2022Article
- Partial Biotinidase Deficiency Revealed Imbalances in Acylcarnitines Profile at Tandem Mass Spectrometry Newborn Screening.International journal of environmental research and public health · 2021Article
- Newborn Screening for Biotinidase Deficiency. The Experience of a Regional Center in Italy.Frontiers in pediatrics · 2021Article
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Authors and funding
7 authors at 2 institutions in 1 country.
Funding
No grant is acknowledged in the PubMed record.
Abstract
The biotinidase (BTD) enzyme is essential for recycling biotin, a water-soluble B-complex vitamin that is the coenzyme of four carboxylases involved in fatty acid synthesis, amino acid catabolism and gluconeogenesis. If untreated, total or partial BTD deficiencies lead to an autosomal recessive inherited organic aciduria whose clinical features, mainly presenting in the first years of life, include, seizures, skin rash, and alopecia. Based on residual BTD enzyme activity it is possible to identify partial or total biotinidase deficiency. The incidence of profound and partial biotinidase deficiency worldwide is estimated to be about 1 in 60.000. We report twelve years of experience in the newborn screening of biotinidase deficiency on 466.182 neonates. When a positive screening result occurred, a clinical evaluation was made of the patient and genetic counselling was offered to the family. Molecular analysis the BTD gene was carried out in all recalled neonates. Newborn screening lead to the identification of 75 BTD deficiencies with an incidence of about 1:6.300 births, ten times higher than the reported worldwide incidence. BTD deficiency was confirmed at a genomic level in all patients, demonstrating a high frequency of the p.(Asp444His) amino acid substitution and the complex allele p.(Ala171Thr)/p.(Asp444His) in the analyzed Italian newborns. Four new mutations (two small deletions, one stop mutation and one missense mutation) and a new combined allelic alteration were identified. Our data suggests that there is a high incidence of the biotinidase defect in the Italian population, most likely due to the high frequency of certain mutations.
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