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A deficiency in this enzyme is present in the rare metabolic disorder histidinemia.
Mutations in the gene for histidase are associated with histidinemia and urocanic aciduria.
The majority of individuals with histidinemia have no obvious symptoms that would indicate that a person has this disorder (asymptomatic).
Disruptions in this pathway, caused by a deficiency of histidase, is the underlying cause of histidinemia.
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