Biotinidase Deficiency: Prevalence, Impact And Management Strategies

Abstract

Ebru Canda, Sema Kalkan Uçar, Mahmut Çoker Department of Pediatrics, Faculty of Medicine, Ege University, Izmir, TurkeyCorrespondence: Ebru CandaDepartment of Pediatrics, Faculty of Medicine, Ege University, Izmir 35040, TurkeyTel + 90 232 390 1293Email [email protected]: 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

Keywords

• biotinidase
• biotin
• newborn screening