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, 2020 (SCI İndekslerine Giren Dergi) identifier identifier identifier

  • Cilt numarası: 63 Konu: 11
  • Basım Tarihi: 2020
  • Doi Numarası: 10.1016/j.ejmg.2020.104032
  • Dergi Adı: EUROPEAN JOURNAL OF MEDICAL GENETICS

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.