Hypouricemic, mentally retarded infant with a defect of 5-phosphoribosyl-1-pyrophosphate synthetase of erythrocytes.

WADA, Y., NISHIMURA, Y., TANABU, M., YOSHIMURA, Y., IINUMA, K., YosHIDA, T. and ARAKAWA, Ts. Hypouricemic, Mentally Retarded Infant with a Defect of 5-Phosphoribosyl-I-pyrophosphate Synthetase of Erythrocytes. Tohoku J. exp. Med., 1974, 113 (2), 149-157 An infant with hypouricemia due to a defect of 5-phosphoribosyl-l-pyrophosphate synthetase (PRPP synthetase) (E.C.2.7.6.1.) was described, who was characterized by severe mental retardation, megaloblastic changes in the bone marrow, an abnormally high level of urinary excretion of orotic acid, anq decreased levels of uric acid in the plasma and urine. uric acid; PRPP synthetase; mental retardation