A case diagnosed with biotinidase deficiency in newborn screening test
Makaleler > Tam Makale · 2014
Yazarlar: Ayşe Nur Kavasoǧlu, Hüseyin Onay, Melis Köse, Asude DURMAZ, Sema Kalkan, Mahmut ÇOKER, Ferda Özkinay
Turkiye Klinikleri Pediatri, AHCI İndekslerine Giren Dergi, Uluslararası, Scopus, 2014, cilt 23, ss 49-52
Özet
Biotinidase deficiency is a hereditary disorder of biotin metabolism. The incidence of biotinidase deficiency is indicated as approximately 1/60 000. However, this disease is seen more frequently in Turkey. This enzyme allows the body to use and to recycle the B vitamin biotin. The main findings in biotinidase deficiency leads to nervous system and skin. Prompt diagnosis and early treatment prevents irreversible complications like hearing loss and optic atrophy. Identification of BTD gene mutations in individual patients is important to give genetic counseling and to browse other family members about this disease. In this study we present a non-symptomatic female patient with biotinidase deficiency who was diagnosed in the newborn screening. Biotinidase activity was determined 3% of the patient. BTD gene mutation analysis was performed and p.Q456H, c.1324delG (p.V442SfsX59) and p.D444H mutations were found. Mutations in the patient were assessed by parental mutation analysis. Copyright © 2014 by Türkiye Klinikleri.