Biotinidase deficiency is an autosomal recessive metabolic disorder whose diagnosis currently depends on clinical symptoms and a biotinidase enzyme assay. This study aimed to investigate the mutational status and enzymatic activity of biotinidase deficiency in seven unrelated Jordanian families including 10 patients and 17 healthy family members. Amplified DNA was analyzed by the automated Sanger sequencing method, and the enzymatic assay was performed using a colorimetric assessment. Biotinidase level was significantly lower (p < 0.001) in BTD children compare to their non-affected family members. Genetic sequencing revealed six different mutations in Jordanian patients. One mutation was novel and located in exon 4, which could be a prevalent mutation for biotinidase deficiency in the Jordanian population. Identification of these common mutations and combing the enzymatic activity with genotypic data will help clinicians with regard to better genetic counseling and management through implementing prevention programs in the future.

Central European Institute of Technology Brno University of Technology Purkynova 61200 Brno Czech Republic

Department of Applied Biological Sciences Jordan University of Science and Technology Irbid 22110 Jordan

Department of Biotechnology and Genetic Engineering Jordan University of Science and Technology Irbid 22110 Jordan

Department of Chemistry and Biochemistry Mendel University in Brno Zemedelska 61300 Brno Czech Republic

Department of Pathology Division of Molecular Genetic Pathology King Hussein Medical Center Amman 11855 Jordan

Department of Pediatrics Jordan University of Science and Technology Irbid 22110 Jordan

Department of Pediatrics Metabolic Genetics Clinic Queen Rania Al Abdullah Children's Hospital King Hussein Medical Centre Amman 11855 Jordan

Princess Haya Biotechnology Center Jordan University of Science and Technology Irbid 22110 Jordan

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