Glutaric aciduria type 1: Genetic and phenotypic spectrum in 53 patients

BİLGİNER GÜRBÜZ B., YÜCEL YILMAZ D., COŞKUN T., TOKATLI A., DURSUN A., SİVRİ H. S.

EUROPEAN JOURNAL OF MEDICAL GENETICS, vol.63, no.11, 2020 (SCI-Expanded) identifier identifier identifier

  • Publication Type: Article / Article
  • Volume: 63 Issue: 11
  • Publication Date: 2020
  • Doi Number: 10.1016/j.ejmg.2020.104032
  • Journal Name: EUROPEAN JOURNAL OF MEDICAL GENETICS
  • Journal Indexes: Science Citation Index Expanded (SCI-EXPANDED), Scopus, Academic Search Premier, BIOSIS, EMBASE, MEDLINE
  • Keywords: Glutaric aciduria Type-1, Pathogenic variants, Macrocephaly, Dystonia, Molecular genetics, COA DEHYDROGENASE GENE, ACIDEMIA TYPE-I, MOLECULAR FINDINGS, CHINESE PATIENTS, MUTATIONS, GENOTYPE
  • Hacettepe University Affiliated: Yes

Abstract

Introduction: Glutaric aciduria type 1 (GA1) is a rare and inherited autosomal-recessive metabolic disorder that occurs in the deficiency of glutaryl-co-enzyme A dehydrogenase (GCDH) enzyme encoded by GCDH gene. In this study, we aim to retrospectively investigate the clinical, biochemical, and neuroradiological parameters and examine the spectrum of GCDH gene variants in Turkish patients with glutaric aciduria type 1.