Urocanic Aciduria: A Defect in the Urocanase Activity in the Liver of a Mentally Retarded
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- YOSHIDA TOSHIO
- Department of Pediatrics, Tohoku University School of Medicine
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- TADA KEIYA
- Department of Pediatrics, Tohoku University School of Medicine
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- HONDA YOSHIYUKI
- Department of Pediatrics, Tohoku University School of Medicine
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- ARAKAWA TSUNEO
- Department of Pediatrics, Tohoku University School of Medicine
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Abstract
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.
Journal
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- The Tohoku Journal of Experimental Medicine
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The Tohoku Journal of Experimental Medicine 104 (4), 305-312, 1971
Tohoku University Medical Press
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Details 詳細情報について
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- CRID
- 1390282679217365888
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- NII Article ID
- 130003491555
- 40018682357
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- NII Book ID
- AA00863920
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- COI
- 1:STN:280:DyaE38%2Fltlyhtg%3D%3D
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- ISSN
- 13493329
- 00408727
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- NDL BIB ID
- 8507397
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- PubMed
- 5124677
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- Text Lang
- en
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- Data Source
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- JaLC
- NDL
- Crossref
- PubMed
- CiNii Articles
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- Abstract License Flag
- Disallowed