Urocanic aciduria

Urocanic aciduria is a rare metabolic disorder characterized by an excess of urocanic acid in the urine. It is caused by a deficiency of the enzyme urocanase, which is responsible for the conversion of urocanic acid to iminoglutamic acid in the histidine metabolism pathway.

Symptoms and Signs

The symptoms of urocanic aciduria can vary greatly from person to person. Some individuals may experience no symptoms, while others may have severe neurological symptoms. Common symptoms can include intellectual disability, seizures, growth retardation, and developmental delay.

Causes

Urocanic aciduria is caused by a deficiency of the enzyme urocanase. This enzyme is responsible for the conversion of urocanic acid to iminoglutamic acid in the histidine metabolism pathway. The deficiency of this enzyme leads to an accumulation of urocanic acid in the body, which is then excreted in the urine.

Diagnosis

The diagnosis of urocanic aciduria is typically made through urine tests that detect high levels of urocanic acid. Genetic testing may also be used to confirm the diagnosis and identify the specific mutation causing the enzyme deficiency.

Treatment

There is currently no cure for urocanic aciduria. Treatment is focused on managing the symptoms and preventing complications. This may include medications to control seizures, special diets to limit the intake of histidine, and physical and occupational therapy to help with developmental delays.

See also

• Histidinemia
• Histidine
• Metabolic disorder

References

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