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Urocanase deficiency

Known as: High urine urocanic acid levels, UROCD, Urocanic aciduria 
An increased concentration of urocanic acid in the urine. [HPO:probinson]
National Institutes of Health

Related topics

Related topics

7 relations

Broader (2)

Amino Acid Metabolism, Inborn ErrorsUrocanate Hydratase
AtaxiaAutosomal recessive inheritanceMental RetardationTremor

Papers overview

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Review
1998
Review
1998
[Urocanic aciduria (urocanase deficiency)].
1980
1980
A liver urocanase deficiency.
1971
1971
Urocanic aciduria: a defect in the urocanase activity in the liver of a mentally retarded.
A new entity of inborn error of histidine metabolism was described. This was characterized by 1) urocanic aciduria, which was… 
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