Abstract #0940

Zinnanti W, Lazovic J, Cheng K, Smith M

Deficiency in glutaryl-CoA dehydrogenease (GCDH), leads to accumulation of glutaryl-CoA and glutaric acid. Affected individuals may suffer striatal degeneration within the first few years of life. Pathophysiology of the selective striatal vulnerability remains unclear, and an animal model of striatal specific injury is still missing. We exposed Gcdh -/- mice to high lysine diet. High lysine diet resulted in vasogenic edema within the striatum and death in 75% of 4-week-old Gcdh -/- mice. In 8-week-old Gcdh -/- mice after 6 weeks on high lysine diet increased vacuolation of the striatal patches and neuronal loss within cortex were observed.