Evaluation of the efficiency of serum biotinidase activity as a newborn screening test in Turkey


Ercan M., Akbulut E. D. , Oz O., Atas N., Karaca M. , YILMAZ F. M.

JOURNAL OF PEDIATRIC ENDOCRINOLOGY & METABOLISM, cilt.34, sa.1, ss.89-94, 2021 (SCI İndekslerine Giren Dergi) identifier identifier identifier

  • Yayın Türü: Makale / Tam Makale
  • Cilt numarası: 34 Konu: 1
  • Basım Tarihi: 2021
  • Doi Numarası: 10.1515/jpem-2020-0382
  • Dergi Adı: JOURNAL OF PEDIATRIC ENDOCRINOLOGY & METABOLISM
  • Sayfa Sayıları: ss.89-94

Özet

Objectives: Biotinidase Deficiency (BD) is an autosomal recessive metabolic disorder. However, the relationship between genotype and biochemical phenotype has not been completely elucidated yet. But still, some mutations are accepted to be associated with profound or partial deficiency. We aimed to evaluate the results of biochemical enzyme activity in accordance with the presence of genetic mutations and investigate the correlation between genotype and biochemical phenotype together in the study.