Amino acid metabolism disorders and PAH gene mutations in Southeastern Anatolia Region

Oz O., Akbulut E. D., Karadag M. E., GÖNEL A., KOYUNCU İ.

TURKISH JOURNAL OF BIOCHEMISTRY-TURK BIYOKIMYA DERGISI, vol.46, no.4, pp.387-392, 2021 (SCI-Expanded) identifier identifier

  • Publication Type: Article / Article
  • Volume: 46 Issue: 4
  • Publication Date: 2021
  • Doi Number: 10.1515/tjb-2020-0338
  • Journal Name: TURKISH JOURNAL OF BIOCHEMISTRY-TURK BIYOKIMYA DERGISI
  • Journal Indexes: Science Citation Index Expanded (SCI-EXPANDED), Scopus, Academic Search Premier, EMBASE, Food Science & Technology Abstracts, TR DİZİN (ULAKBİM)
  • Page Numbers: pp.387-392
  • Keywords: aminoacid metabolism disorders, LC-MS/MS, PAH gene, phenylketonuria, phenylalanine hydroxylase, PHENYLALANINE-HYDROXYLASE DEFICIENCY, MOLECULAR EPIDEMIOLOGY, INBORN-ERRORS, PHENYLKETONURIA
  • Dokuz Eylül University Affiliated: No

Abstract

Objectives: Inborn errors of metabolism are generally autosomal recessive inherited disorders. The incidence and genetic features of neonatal metabolic disorders vary significantly by regions and populations. In this study, we aimed to determine the amino acid metabolism disorders and evaluate the genetic test results of these patients retrospectively.