Regional brain glucose utilization in adenylosuccinase-deficient patients measured by positron emission tomography

Abstract

Regional brain glucose utilization was investigated by positron emission tomography with fluorodeox-yglucose 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. © 1988 International Pediatric Research Foundation, Inc.