Glutaric aciduria type 1: Typical aspects in imaging

Abstract

Glutaric aciduria type 1 is an autosomal recessive lysine and tryptophan disorder characterized by glutamic acid and other metabolic by-product accumulation. This disease can be diagnosed in the postnatal period, supported by magnetic resonance imaging (MRI) and confirmed by biochemistry. This article aims to highlight the typical features of this disease in brain MRI which connects frontotemporal atrophy with bilateral and symmetrical signal abnormalities of the brainstem, periventricular white matter, and basal ganglia. As a result, we use two cases to show how this rare disease manifests itself in imaging.