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

Pediatr Res. 1988 Aug;24(2):238-42. doi: 10.1203/00006450-198808000-00020.


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.

Publication types

  • Research Support, Non-U.S. Gov't

MeSH terms

  • Adenylosuccinate Lyase / deficiency*
  • Adolescent
  • Adult
  • Brain / metabolism*
  • Child
  • Child, Preschool
  • Deoxyglucose / analogs & derivatives
  • Deoxyglucose / metabolism
  • Fluorodeoxyglucose F18
  • Glucose / metabolism*
  • Humans
  • Lyases / deficiency*
  • Metabolism, Inborn Errors / diagnosis*
  • Tomography, Emission-Computed*


  • Fluorodeoxyglucose F18
  • Deoxyglucose
  • Lyases
  • Adenylosuccinate Lyase
  • Glucose