Abstract
This prospective study aimed to identify the affected brain structures and their functional correlations in the cortical and subcortical regions in patients with glutaric aciduria type 1 (GA-1). Seventeen patients with GA-1 and 17 healthy controls (HCs) were included (mean age, 38 ± 17 months; both contained 6 males). Three-dimensional-T1 weighted imaging data were acquired, voxel- and surface-based morphometry were used to quantitatively investigate differences in gray matter volume (GMV) and cortical thickness (CT) and to-sample t-tests were performed. Patients with GA-1 had lower GMV in the bilateral basal ganglia, thalamus, and limbic system, default mode network, and right cerebellum, and lower CT in the bilateral insula and lateral occipital cortex, right inferior parietal cortex, inferior temporal gyrus, and posterior cingulate cortex, than HCs. Patients with GA-1 had higher CT in the bilateral lingual gyrus, parahippocampal gyrus, superior frontal gyrus, left postcentral gyrus, right precuneus, precentral gyrus, middle temporal gyrus, and inferior temporal gyrus, than HCs. In GA-1 patients, blood glutaryl-carnitine levels correlated significantly with the GMV in the left inferior temporal gyrus. These brain morphological analyses revealed quantitative differences in the GMV and CT of GA-1 patients compared to HCs, and provided useful information about normal and abnormal neuroanatomy.