A novel variant of the GCDH gene causes glutaric aciduria type 1 in a Sudanese family: a case report

Abstract

Background: Glutaric aciduria type 1 (GA1) is a rare autosomal recessive neurometabolic disorder caused by mutations in the glutaryl CoA dehydrogenase gene (GCDH). If left untreated, it leads to accumulation of neurotoxic metabolites leading to poor neurological outcomes characterized by encephalopathic crises, subdural effusions and extrapyramidal features.