ArticleJournal of inherited metabolic disease2009
High incidence of profound biotinidase deficiency detected in newborn screening blood spots in the Somalian population in Minnesota.
Article in Journal of inherited metabolic disease, 2009. The graph could read no effect estimate from its abstract, so it casts no vote on the map. Cited by 14 papers.
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Who cites it
14 citing papers in PubMed, 21 citations in OpenAlex.
- 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
- Genomic and Structural Investigation of Mutations in Biotinidase (BTD) Gene Deficiency in Greater Middle Eastern Cohort: Insights from Molecular Dynamics Study.Biomedicines · 2025Article
- Biotinidase Deficiency Induced Optic Neuropathy: A Case Report and Literature Review.Neuro-ophthalmology (Aeolus Press) · 2025Review
- A Rare Biotinidase Deficiency in the Pediatrics Population: Genotype-Phenotype Analysis.Journal of pediatric genetics · 2023Review
- Dual RNA Sequencing Meta-analysis inmSystems · 2021Article
- A Scoping Review of the Health of African Immigrant and Refugee Children.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
- Host biotin is required for liver stage development in malaria parasites.Proceedings of the National Academy of Sciences of the United States of America · 2018Article
- Using variant databases for variant prioritization and to detect erroneous genotype-phenotype associations.BMC bioinformatics · 2017Article
- Inborn Errors of Metabolism in the United Arab Emirates: Disorders Detected by Newborn Screening (2011-2014).JIMD reports · 2016Article
- Detection of biotinidase gene mutations in Turkish patients ascertained by newborn and family screening.European journal of pediatrics · 2015Article
- High Incidence of Biotinidase Deficiency from a Pilot Newborn Screening Study in Minas Gerais, Brazil.JIMD reports · 2015Article
- Profound biotinidase deficiency: a rare disease among native Swedes.Journal of inherited metabolic disease · 2010Article
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Authors and funding
10 authors at 5 institutions in 1 country.
Funding
No grant is acknowledged in the PubMed record.
Abstract
Newborns identified with profound biotinidase deficiency (BTD) by the Minnesota Newborn Screening Program (MN NBS) between 1 October 2004 and 30 May 2008 were all from new immigrant groups. Thirty-three positive cases of BTD were identified out of 264 727 infants screened by the Wolf colorimetric system during the period of this study by MN NBS. Five cases of profound BTD (0.1 to <0.6 nmol/min per ml) and 26 cases of partial BTD (0.9 to 2.3 nmol/min per ml) were later confirmed through measurement of serum biotinidase activity. The incidence of combined partial and profound BTD of 1/8540 and that of profound BTD of 1/52 945 in Minnesota are unusually high in comparison with the reported worldwide numbers of 1/61 067 for combined BTD and 1/137 401 for profound BTD. Four out of the 5 cases of profound BTD ascertained in the MN NBS cohort were of Somali ethnic background, and the remaining case was of Asian (Pakistani/Indian) ethnic background. All four Somali patients have the P497S mutation, with one of the four being homozygous for the mutation. The three compound heterozygotes all have a novel mutation (P142T) and two of them have another change (Y428Y) that has never been described. Within the last two decades, Minnesota has become home to an estimated 40 000 Somali immigrants and their children (<1% of the total Minnesota population). New population demographics prompt careful analysis of case cohorts to identify specific groups at risk for rare inborn errors of metabolism.
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