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, vol.34, no.1, pp.89-94, 2021 (SCI-Expanded, Scopus) identifier identifier identifier

  • Publication Type: Article / Article
  • Volume: 34 Issue: 1
  • Publication Date: 2021
  • Doi Number: 10.1515/jpem-2020-0382
  • Journal Name: JOURNAL OF PEDIATRIC ENDOCRINOLOGY & METABOLISM
  • Journal Indexes: Science Citation Index Expanded (SCI-EXPANDED), Scopus, BIOSIS, CAB Abstracts, EMBASE, MEDLINE
  • Page Numbers: pp.89-94
  • Istanbul University Affiliated: Yes

Abstract

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.