CEREBRAL OXYGEN AND GLUCOSE-METABOLISM IN GLYCOGEN-STORAGE-DISEASE WITH NORMAL ACID MALTASE - CASE-REPORT

A 26-year-old male with cardiomyopathy, cervical muscle weakness and m ental retardation was diagnosed as having glycogen storage disease wit h normal acid maltase on the basis of his clinical, pathological and b iochemical findings. Positron emission tomography showed that cerebral oxygen metabolism was normal, while cerebral glucose metabolism was d ecreased in the cerebral cortexes. The decrease of the glucose metabol ic rate may reflect an abnormality of cerebral glucose metabolism in t his disorder and may be related to mental retardation, which is one of the characteristic symptoms.