High incidence of profound biotinidase deficiency detected in newborn screening blood spots in the Somalian population in Minnesota

K. Sarafoglou, K. Bentler, A. Gaviglio, K. Redlinger-Grosse, C. Anderson, M. McCann, B. Bloom, Dusica Babovic-Vuksanovic, D. Gavrilov, S. A. Berry

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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.

Original languageEnglish (US)
JournalJournal of Inherited Metabolic Disease
Volume32
Issue numberSUPPL. 1
DOIs
StatePublished - Jan 1 2009

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Biotinidase Deficiency
Newborn Infant
Incidence
Population
Mutation
Biotinidase
Inborn Errors Metabolism
Heterozygote
Cohort Studies

ASJC Scopus subject areas

  • Genetics(clinical)
  • Genetics

Cite this

High incidence of profound biotinidase deficiency detected in newborn screening blood spots in the Somalian population in Minnesota. / Sarafoglou, K.; Bentler, K.; Gaviglio, A.; Redlinger-Grosse, K.; Anderson, C.; McCann, M.; Bloom, B.; Babovic-Vuksanovic, Dusica; Gavrilov, D.; Berry, S. A.

In: Journal of Inherited Metabolic Disease, Vol. 32, No. SUPPL. 1, 01.01.2009.

Research output: Contribution to journalArticle

Sarafoglou, K. ; Bentler, K. ; Gaviglio, A. ; Redlinger-Grosse, K. ; Anderson, C. ; McCann, M. ; Bloom, B. ; Babovic-Vuksanovic, Dusica ; Gavrilov, D. ; Berry, S. A. / High incidence of profound biotinidase deficiency detected in newborn screening blood spots in the Somalian population in Minnesota. In: Journal of Inherited Metabolic Disease. 2009 ; Vol. 32, No. SUPPL. 1.
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