Journal of Pediatric Endocrinology and Metabolism, vol.31, no.3, pp.339-343, 2018 (SCI-Expanded)
© 2018 Walter de Gruyter GmbH, Berlin/Boston.Biotinidase deficiency (BD) is an autosomal recessive inborn error of metabolism characterized by neurologic and cutaneous symptoms and can be detected by newborn screening. Newborn screening for BD was implemented in Turkey at the end of 2008. In total, 203 patients who were identified among the infants detected by the newborn screening were later confirmed to have BD through measurement of serum biotinidase activity. We also performed BTD mutation analysis to characterize the genetic profile. Twenty-seven mutations were identified. The most commonly found variants were c.1330G>C (p.D444H), c.1595C>T (p.T532M), c.470G>A (p.R157H), and c.198-104delGCGGCTGinsTCC (p.C33Ffs) with allele frequencies of 0.387, 0.175, 0.165 and 0.049, respectively. Three novel pathogenic and likely pathogenic variants were identified: p.W140∗ (c.419G>A), p.S319F (c.956C>T) and p.L69Hfs∗24 (c.192-193insCATC). We also identified three mutations reported in just one patient in the past (p.V442Sfs∗59 [c.1324delG], p.H447R [c.1340A>G] and p.198delV [c.592-594delGTC]). Although all of the patients were asymptomatic under the treatment of biotin, only one patient, who had the novel c.419G>A homozygous mutation became symptomatic during an episode of acute gastroenteritis with a presentation of ketosis and metabolic acidosis. Among the screened patients, 156 had partial and 47 had profound BD. We determined the mutation spectra of BD from the southeastern part of Turkey. The results of this study add three more mutations to the total number of mutations described as causing BD.