BDNF is increased in patients with glutaric acidemia type I
Sep. 6, 2022
Glutaric acidemia type I (GA1) is caused by severe deficiency in enzyme glutaryl-CoA dehydrogenase activity, which results in an impairment on lysine catabolism. These patients have accumulation of glutaric acid and glutaryl carnitine, with loss of striatal neurons and atrophy of the frontotemporal cortex. The aim of investigators was to investigate plasma markers of neurodegeneration and inflammation, such as brain-derived neurotrophic factor (BDNF) and cathepsin D in patients (N = 6) with GA1 and matched healthy controls.