Mutational analysis for biotinidase deficiency of a Greek patients' cohort ascertained through expanded newborn screening

• Published in: Journal of human genetics Vol. 56; no. 12; pp. 861 - 865
• Main Authors: Thodi, Georgia, Molou, Elina, Georgiou, Vassiliki, Loukas, Yannis L, Dotsikas, Yannis, Biti, Sofia, Papadopoulos, Konstantinos, Konstantinou, Dimitris, Antoniadi, Marina, Doulgerakis, Emmanuel
• Format: Journal Article
• Language: English
• Published: England Nature Publishing Group 01.12.2011
• Subjects: Alleles; Biotin; Biotinidase; Biotinidase - genetics; Biotinidase - metabolism; Biotinidase Deficiency - diagnosis; Biotinidase Deficiency - genetics; Cohort Studies; Diagnosis; DNA Mutational Analysis; Exons; Genotyping; Germ-Line Mutation; Greece; Humans; Infant, Newborn; Medical screening; Mutation; Neonatal Screening; Neonates; Patients; Polymorphism, Genetic; Greece

Late-onset multiple carboxylase deficiency, also known as biotinidase (BTD) deficiency, is an autosomal recessively inherited disorder of biotin metabolism. Its early diagnosis and treatment seems that it can even fully prevent its various clinical manifestations. Mutations in the BTD gene scattered...