EUROPEAN JOURNAL OF MEDICAL GENETICS, vol.63, no.11, 2020 (SCI-Expanded)
Article / Article
EUROPEAN JOURNAL OF MEDICAL GENETICS
Science Citation Index Expanded (SCI-EXPANDED), Scopus, Academic Search Premier, BIOSIS, EMBASE, MEDLINE
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:
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.