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

โœ Scribed by Sarafoglou, K.; Bentler, K.; Gaviglio, A.; Redlinger-Grosse, K.; Anderson, C.; McCann, M.; Bloom, B.; Babovic-Vuksanovic, D.; Gavrilov, D.; Berry, S. A.


Book ID
120514344
Publisher
Springer
Year
2009
Tongue
English
Weight
103 KB
Volume
32
Category
Article
ISSN
0141-8955

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Biotinidase deficiency is inherited as an autosomal recessive trait that, unless treated with pharmacologic doses of biotin, can result in neurologic and cutaneous symptoms. We have identified two new mutations in exon D of the biotinidase gene of children with profound biotinidase deficiency ascert