The Tohoku Journal of Experimental Medicine
Online ISSN : 1349-3329
Print ISSN : 0040-8727
ISSN-L : 0040-8727
Urocanic Aciduria: A Defect in the Urocanase Activity in the Liver of a Mentally Retarded
TOSHIO YOSHIDA, KEIYA TADA, YOSHIYUKI HONDA, TSUNEO ARAKAWA
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キーワード: urocanic aciduria, urocanase, mental retardation, formiminoglutamic acid, histidine metabolism
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1971 年 104 巻 4 号 p. 305-312

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A new entity of inborn error of histidine metabolism was described. This was characterized by 1) urocanic aciduria, which was exaggerated after an oral dose of L-histidine, 2) a delayed clearance curve of serum histidine levels after an oral dose of L-histidine, 3) urinary excretion of no detectable amounts of formiminoglutamic acid after an oral load with L-histidine or after an intravenous injection of urocanate, 4) a marked decrease in the urocanase activity of the liver, and 5) mental retardation of probably early onset.
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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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