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Biotinidase Deficiency: Prevalence, Impact And Management Strategies

Authors Canda E, Kalkan Uçar S, Çoker M

Received 30 September 2019

Accepted for publication 5 February 2020

Published 4 May 2020 Volume 2020:11 Pages 127—133

DOI https://doi.org/10.2147/PHMT.S198656

Checked for plagiarism Yes

Review by Single-blind

Peer reviewer comments 2

Editor who approved publication: Professor Roosy Aulakh


Ebru Canda, Sema Kalkan Uçar, Mahmut Çoker

Department of Pediatrics, Faculty of Medicine, Ege University, Izmir, Turkey

Correspondence: Ebru Canda
Department of Pediatrics, Faculty of Medicine, Ege University, Izmir 35040, Turkey
Tel + 90 232 390 1293
Email ebru.canda@gmail.com

Abstract: Biotinidase deficiency is an autosomal recessive inherited neurocutaneous disorder. Clinically untreated patients with BD can present with variable neurological and dermatological signs, such as seizures, hypotonia, feeding problems, developmental delay, hearing loss, optic atrophy ataxia, alopecia, and skin rash. Clinical findings of patients with partial BD reported in the literature show that it can occur from infancy to adulthood. Outcomes of newborn screening programs support the fact that biotin treatment started after birth prevents patients with biotinidase deficiency from developing symptoms. Presence of late-onset cases with different clinical findings indicates that there is still much to learn about BD.

Keywords: biotinidase, biotin, newborn screening

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