Congenital Disorder of Glycosylation: Clinical and Molecular Characteristics of 9 Patients from Turkey

Kose M., Kose E., Kagnici M., Tekin H. G., Ozen B., Ozdemir T. R., ...More

IZMIR DR BEHCET UZ COCUK HASTANESI DERGISI, vol.10, no.3, pp.267-273, 2020 (ESCI) identifier

  • Publication Type: Article / Article
  • Volume: 10 Issue: 3
  • Publication Date: 2020
  • Doi Number: 10.5222/buchd.2020.09471
  • Journal Name: IZMIR DR BEHCET UZ COCUK HASTANESI DERGISI
  • Journal Indexes: Emerging Sources Citation Index (ESCI), TR DİZİN (ULAKBİM)
  • Page Numbers: pp.267-273
  • Keywords: CDG, congenital disorder of glycosylation, PMM2, MPI, ALG1, ALG3, DOLK, COG4, next- generation sequence analysis, sialotransferrin electrophoresis, CDG
  • Dokuz Eylül University Affiliated: No

Abstract

Objective: Congenital defects of glycosylation (CDG) belongs to a group of genetic diseases that lead to impairment in protein, lipid glycosylation and glycosylphosphatidylinositol synthesis. More than 140 types of CDG have been identified and the number is increasing day by day. Since glycosylation is very important for post-translational process and glycosylation is required for half of the proteins in human organism to be able to exert an effect, causes the disease to have an extremely wide clinical spectrum in affected patients. Our aim is to share the clinical features of our patients with CDG and contribute to increase in the awareness of this disease group with highly heterogeneous clinical spectrum.