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A liver urocanase deficiency

, : A liver urocanase deficiency. Metabolism Clinical & Experimental 29(11): 1013-1019

Two sisters aged with a rage inborn error of histidine metabolism resulting from urocanase deficiency are presented. The more common form of familial histidinemia due to histidase deficiency is excluded. The urocanase deficiency is proven by demonstrating increased excretion of precursor metabolites and decreased excretion of metabolites of the product of the urocanase enzyme action. The strongest evidence for the urocanase defect rests on the demonstration of urocanase deficiency and normal histidase activity in liver.


PMID: 6107814

DOI: 10.1016/0026-0495(80)90209-7

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