Urocanic aciduria is a rare inherited disorder that affects the body's ability to break down the amino acid histidine. People with this disorder have an accumulation of urocanic acid in their urine, which can lead to a variety of symptoms, including skin rashes, seizures, and mental retardation. Treatment typically involves dietary changes and supplementation with vitamins and minerals.

The symptoms of Urocanic aciduria include:

-Developmental delay
-Seizures
-Intellectual disability
-Growth retardation
-Feeding difficulties
-Hypotonia
-Hyperactivity
-Behavioral problems
-Autism spectrum disorder
-Skin rashes
-Photosensitivity
-Hearing loss
-Vision problems
-Gastrointestinal issues
-Renal problems
-Cardiac arrhythmias

Urocanic aciduria is a rare inherited disorder caused by a deficiency of the enzyme urocanase. This enzyme is responsible for breaking down the amino acid histidine, which is found in proteins. Without the enzyme, histidine builds up in the body and is excreted in the urine, leading to the condition known as urocanic aciduria.

The primary treatment for Urocanic aciduria is dietary management. This includes avoiding foods that are high in histidine, such as fish, poultry, and eggs, and supplementing with histidine-free amino acid formulas. Other treatments may include vitamin B6 supplementation, as well as medications to reduce the amount of histidine in the body. In some cases, a liver transplant may be necessary.

1. Genetic mutations in the URO-C gene, which is responsible for the production of urocanic acid.

2. Deficiency of the enzyme histidine decarboxylase, which is responsible for the conversion of histidine to urocanic acid.

3. Exposure to certain environmental toxins, such as mercury, lead, and cadmium.

4. Certain medications, such as anticonvulsants, antipsychotics, and antibiotics.

5. Certain medical conditions, such as liver disease, kidney disease, and diabetes.

6. Certain dietary deficiencies, such as a lack of vitamin B6 or zinc.

There is no known cure for Urocanic aciduria. However, some medications may be used to help manage the symptoms. These include antifungal medications, antibiotics, and anti-inflammatory medications. Additionally, dietary changes may be recommended to help reduce the amount of urocanic acid in the body.