A Novel Double Homozygous BTD Gene Mutation in A Case of Profound Biotinidase Deficiency

Authors : Kübra DEVECİ, Halil Tuna AKAR, Yılmaz YILDIZ, R. Köksal ÖZGÜL

Pages : 250-252

Doi:10.12956/tchd.1082479

View : 152 | Download : 286

Publication Date : 2023-05-29

Article Type : Other Papers

Abstract :Biotinidase deficiency is a rare autosomal recessive inherited metabolic disorder. If not treated in the early neonatal period, it can cause serious neurological defects, metabolic abnormalities, coma and death. Screening for biotinidase deficiency in newborns and early treatment with free biotin supplementation can prevent all symptoms from occurring. The biotinidase enzyme is encoded by the BTD gene. More than 165 mutations have been identified in the BTD gene. In this case report; a rare case with homozygous double mutation in the BTD gene is presented; and a new allelic variant and genotype is defined. Especially in societies where consanguineous marriages are common; it should be kept in mind that apart from common mutations, different genetic variants may also be seen.
Keywords : Doğumsal metabolik hastalıklar, biyotinidaz eksikliği, yenidoğan taraması