Hypouricemic, Mentally Retarded Infant with a Defect of 5-Phosphoribosyl-1-pyrophophate Synthetase of Erythrocytes

Hypouricemic, Mentally Retarded Infant with a Defect of 5-Phosphoribosyl-1-pyrophophate Synthetase of Erythrocytes

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,...

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Bibliographic Details
Published in:The Tohoku Journal of Experimental Medicine Vol. 113; no. 2; pp. 149 - 157
Main Authors: WADA, YOSHIRO, NISHIMURA, YASUHIRO, TANABU, MUNEYUKI, YOSHIMURA, YOZO, IINUMA, KAZUIE, YOSHIDA, TOSHIO, ARAKAWA, TSUNEO
Format: Journal Article
Language:English
Published: Tohoku University Medical Press 1974
Subjects:
mental retardation
PRPP synthetase
uric acid
Online Access:Get full text
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Summary: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.
ISSN:0040-8727
1349-3329
DOI:10.1620/tjem.113.149