The Tohoku Journal of Experimental Medicine
Online ISSN : 1349-3329
Print ISSN : 0040-8727
ISSN-L : 0040-8727
Hypouricemic, Mentally Retarded Infant with a Defect of 5-Phosphoribosyl-1-pyrophophate Synthetase of Erythrocytes
YOSHIRO WADA, YASUHIRO NISHIMURA, MUNEYUKI TANABU, YOZO YOSHIMURA, KAZUIE IINUMA, TOSHIO YOSHIDA, TSUNEO ARAKAWA
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Keywords: uric acid, PRPP synthetase, mental retardation
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1974 Volume 113 Issue 2 Pages 149-157

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Abstract

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, an4 decreased levels of uric acid in the plasma and urine.

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