Outcomes of oral biotin treatment in patients with biotinidase deficiency — Twenty years follow-up

Outcomes of oral biotin treatment in patients with biotinidase deficiency — Twenty years follow-up

Introduction: Biotinidase deficiency (BTD) is an inborn error of biotin metabolism inherited as an autosomal recessive trait. Due to the, biotinidase deficiency, biotin is not recycled. Individuals with BTD usually exhibit neurological and cutaneous abnormalities unless treated with biotin. Suppleme...

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Bibliographic Details
Main Authors: Edyta Szymańska, Małgorzata Średzińska, Agnieszka Ługowska, Magdalena Pajdowska, Dariusz Rokicki, Anna Tylki-Szymańska
Format: Article
Language:English
Published: Elsevier 2015-12-01
Series:Molecular Genetics and Metabolism Reports
Subjects:
Biotinidase deficiency
Biotin
Newborn screening
Online Access:http://www.sciencedirect.com/science/article/pii/S221442691530032X

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http://www.sciencedirect.com/science/article/pii/S221442691530032X

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