Biotinidase Deficiency: Prevalence, Impact And Management Strategies.
Makaleler > Tam Makale · 2020
Yazarlar: Ebru CANDA, Sema KALKAN UÇAR, Mahmut ÇOKER
Pediatric health, medicine and therapeutics, SCI Expanded İndekslerine Giren Dergi, Uluslararası, 2020, cilt 11, ss 127-133
DOI: 10.2147/phmt.s198656
Özet
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.