Regional brain glucose utilization was investigated by positron emission tomography with fluorodeoxyglucose in three children with adenylosuccinase deficiency. A consistent pattern was found in the three patients, namely a marked decrease of fluorodeoxyglucose uptake in all gray structures, with the exception of the cerebellum, which was minimally affected. Anomalies predominated in the cerebral cortex, particularly in the anterior regions; they were less pronounced in thalamus and basal ganglia. The observations suggest that positron emission tomography may be a useful tool for the localization of the deleterious effects of metabolic diseases and for the investigation of their pathophysiologic mechanisms.
De Volder, Anne ; Jaeken, Jaak ; Van den Berghe, Georges ; Bol, Anne ; Michel, Christian ; et. al. Regional brain glucose utilization in adenylosuccinase-deficient patients measured by positron emission tomography.. In: Pediatric research, Vol. 24, no. 2, p. 238-42 (1988)
