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, cilt.63, sa.11, 2020 (SCI-Expanded) identifier identifier identifier

  • Yayın Türü: Makale / Tam Makale
  • Cilt numarası: 63 Sayı: 11
  • Basım Tarihi: 2020
  • Doi Numarası: 10.1016/j.ejmg.2020.104032
  • Dergi Adı: EUROPEAN JOURNAL OF MEDICAL GENETICS
  • Derginin Tarandığı İndeksler: Science Citation Index Expanded (SCI-EXPANDED), Scopus, Academic Search Premier, BIOSIS, EMBASE, MEDLINE
  • Anahtar Kelimeler: Glutaric aciduria Type-1, Pathogenic variants, Macrocephaly, Dystonia, Molecular genetics, COA DEHYDROGENASE GENE, ACIDEMIA TYPE-I, MOLECULAR FINDINGS, CHINESE PATIENTS, MUTATIONS, GENOTYPE
  • Hacettepe Üniversitesi Adresli: Evet

Özet

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.