Regional brain glucose utilization in adenylosuccinase-deficient patients measured by positron emission tomography.
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
A G
AG
Positron Tomography Laboratory, University of Louvain, Louvain-la-Neuve, Belgium.
Jaeken
J
J
Van den Berghe
G
G
Bol
A
A
Michel
C
C
Cogneau
M
M
Goffinet
A M
AM
D000264:Adenylosuccinate Lyase / Q000172:deficiency*; D000293:Adolescent; D000328:Adult; D001921:Brain / Q000378:metabolism*; D002648:Child; D002675:Child, Preschool; D003847:Deoxyglucose / Q000031:analogs & derivatives / Q000378:metabolism; D019788:Fluorodeoxyglucose F18; D005947:Glucose / Q000378:metabolism*; D006801:Humans; D008190:Lyases / Q000172:deficiency*; D008661:Metabolism, Inborn Errors / Q000175:diagnosis*; D014055:Tomography, Emission-Computed
D019788:Fluorodeoxyglucose F18; D003847:Deoxyglucose; D008190:Lyases; D000264:Adenylosuccinate Lyase; D005947:Glucose