Comprehensive analysis of genotypic and phenotypic characteristics of biotinidase deficiency patients in the eastern region of Türkiye

Ciki K., Alavanda C., Ceylan E. I., Tanyalcin T., Kilavuz S.

TURKISH JOURNAL OF PEDIATRICS, cilt.66, sa.5, ss.608-617, 2024 (SCI-Expanded) identifier identifier identifier identifier

  • Yayın Türü: Makale / Tam Makale
  • Cilt numarası: 66 Sayı: 5
  • Basım Tarihi: 2024
  • Doi Numarası: 10.24953/turkjpediatr.2024.5075
  • Dergi Adı: TURKISH JOURNAL OF PEDIATRICS
  • Derginin Tarandığı İndeksler: Science Citation Index Expanded (SCI-EXPANDED), Scopus, CAB Abstracts, Veterinary Science Database, TR DİZİN (ULAKBİM)
  • Sayfa Sayıları: ss.608-617
  • Hacettepe Üniversitesi Adresli: Evet

Özet

Background. Biotin is a water-soluble vitamin that plays a key role in carboxylation. The formation of free biotin is impaired in biotinidase deficiency (BD), resulting in impaired biotin-dependent carboxylase functions. Based on the percentage of residual serum enzyme activity, BD is classified as partial and profound. Methods. Retrospective data including gender, age, parental consanguinity, family history, biotinidase activity analyses, type of deficiency (partial-profound), physical examination, treatment, and genotypes were evaluated in patients diagnosed with biotinidase deficiency in a single center in the eastern region of T & uuml;rkiye. Patients whose biotinidase enzyme activity was below 30% with biallelic variants in the BTD gene were diagnosed as BD.