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

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

Summary 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 colorim...

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Veröffentlicht in:Journal of inherited metabolic disease 2009-12, Vol.32 (Suppl 1), p.169-173
Hauptverfasser: Sarafoglou, K., Bentler, K., Gaviglio, A., Redlinger-Grosse, K., Anderson, C., McCann, M., Bloom, B., Babovic-Vuksanovic, D., Gavrilov, D., Berry, S. A.
Format: Artikel
Sprache:eng
Schlagworte:
Biochemistry
Biotinidase - genetics
Biotinidase Deficiency - enzymology
Biotinidase Deficiency - epidemiology
Biotinidase Deficiency - genetics
Female
Genetic Carrier Screening
Homozygote
Human Genetics
Humans
Incidence
Infant, Newborn
Internal Medicine
Male
Medicine
Medicine & Public Health
Metabolic Diseases
Minnesota - epidemiology
Mutation
Neonatal Screening
Online Report
Pediatrics
Somalia - ethnology
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Zusammenfassung:Summary 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
ISSN:0141-8955
1573-2665
DOI:10.1007/s10545-009-1135-7