Release Date: 2024-04-04

Newborn Screening for Biotinidase Deficiency

Ilknur Surucu Kara (Author)

Release Date: 2024-04-04

Biotinidase deficiency is an inherited metabolic disorder with a very good prognosis if diagnosed and treated early. Cost-effectiveness has been demonstrated. therefore biotinidase deficiency is covered by newborn screening in many countries around the world. In countries like Turkey, where consanguineous marriages are common, morbidity and mortality have been prevented in a large number of [...]

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Work TypeBook Chapter
Published inNewborn and Childhood Screening Programmes
First Page65
Last Page79
DOIhttps://doi.org/10.69860/nobel.9786053358961.5
ISBN978-605-335-896-1 (PDF)
LanguageENG
Page Count15
Copyright HolderNobel Tıp Kitabevleri
Licensehttps://nobelpub.com/publish-with-us/copyright-and-licensing

Biotinidase deficiency is an inherited metabolic disorder with a very good prognosis if diagnosed and treated early. Cost-effectiveness has been demonstrated. therefore biotinidase deficiency is covered by newborn screening in many countries around the world. In countries like Turkey, where consanguineous marriages are common, morbidity and mortality have been prevented in a large number of individuals with early treatment through national screening programs. The prevalence of biotinidase deficiency varies from country to country and from region to region. Since false positivity and negativity may occur, the diagnosis should be confirmed by quantitative method and molecular genetic analysis.

Ilknur Surucu Kara (Author)
MD, Gaziantep City Hospita
https://orcid.org/0000-0001-7842-9278
3Nutrition and paediatric metabolism specialist, paediatric health and diseases specialist, medical doctor İlknur Sürücü Kara has been working in her profession for twenty years. She has more than forty publications, more than fifty oral presentations and posters, as well as participation in scientific social activities and a moderator. Her academic education is as follows: 2020-2023 Ankara University, Faculty of Medicine Department of Paediatric Metabolism. 2014-2020 Erzincan Binali Yıldırım University, Faculty of Medicine, Department of Pediatrics - head of the department. 2006 - 2010 Atatürk University Faculty of Medicine Department of Pediatrics. 1996-2002 Ege University Faculty of Medicine. The unit she is currently working in: Department of Pediatric Metabolism and Nutrition, Gaziantep City Hospital, Gaziantep, Turkey.

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