title: Electroencephalographic study of an infant with phosphoribosylpyrophosphate synthetase deficiency.
abstract: In a hypouricemic and mentally retarded infant due to a defect of 5-phosphoribosylpyrophosphate synthetase, electroencephalograms were recorded at the age of 4, 7, 10 and 11 months. Hypsarrhythmia was first observed at the age of 10 months, and markedly improved after ACTH therapy with concomitant increase in the enzyme activity of erythrocytes.
mesh_terms: D000324:Adrenocorticotropic Hormone / Q000627:therapeutic use; D004569:Electroencephalography; D006801:Humans; D007223:Infant; D008297:Male; D010770:Phosphotransferases / Q000172:deficiency*; D012268:Ribose-Phosphate Pyrophosphokinase / Q000172:deficiency*; D013036:Spasms, Infantile / Q000150:complications / Q000175:diagnosis / Q000188:drug therapy
chemical_list: D000324:Adrenocorticotropic Hormone; D010770:Phosphotransferases; D012268:Ribose-Phosphate Pyrophosphokinase