Definition:
Also known as Urocanic aciduria or urocanate hydratase deficiency, Urocanase deficiency is a rare disease characterized by the deficiency of the urocanase enzyme.
Symptoms and Signs:
There is no definitive neurometabolic established connecting the disorder with mental retardation. There are aggressive behavior and mental retardation cases however, that have been reported to be associated with the disease.
Causes:
The disease is genetic and has an autosomal recessive inheritance pattern. This means that the defective gene is located on an autosome, and two copies of the gene, one from each parent, are required in order to be born with the disorder. Though not affected by the disorder, both parents usually carry a copy of the defective gene.
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