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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キーワード: uric acid, PRPP synthetase, mental retardation
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1974 年 113 巻 2 号 p. 149-157

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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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    The Tohoku Journal of Experimental Medicine (TJEM) was founded in 1920 by professors of Tohoku Imperial University, Medical School. The TJEM has been published continuously, except for the year of 1946 just after the World War II. The TJEM is open to original articles in all branches of medical sciences. The TJEM also covers the fields of disaster-prevention science, including earthquake archeology.


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