Urocanic aciduria
Urocanic Aciduria
Urocanic Aciduria (pronounced: yoo-roh-KAN-ik as-id-YOOR-ee-uh) is a rare metabolic disorder characterized by an excess of urocanic acid in the urine.
Etymology
The term "Urocanic Aciduria" is derived from the words "urocanic acid," which is a metabolite of the amino acid histidine, and "aciduria," a medical term that refers to the presence of acid in the urine.
Definition
Urocanic Aciduria is a condition that occurs when the body is unable to properly metabolize the amino acid histidine, leading to an excess of urocanic acid in the urine. This condition is typically diagnosed through a urine test that measures the levels of urocanic acid.
Symptoms
The symptoms of Urocanic Aciduria can vary greatly from person to person. Some individuals may experience no symptoms, while others may have symptoms that include developmental delay, intellectual disability, and seizures.
Causes
Urocanic Aciduria is caused by mutations in the Histidine ammonia-lyase gene, which provides instructions for making an enzyme that is involved in the breakdown of histidine. This mutation leads to a deficiency of the enzyme, causing an accumulation of urocanic acid in the body.
Diagnosis
Diagnosis of Urocanic Aciduria is typically made through a urine test that measures the levels of urocanic acid. Genetic testing may also be used to confirm the diagnosis.
Treatment
Treatment for Urocanic Aciduria is typically focused on managing the symptoms of the condition. This may include medications to control seizures, physical therapy to improve motor skills, and special education services to address developmental delays and intellectual disability.
Related Terms
External links
- Medical encyclopedia article on Urocanic aciduria
- Wikipedia's article - Urocanic aciduria
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