Understanding Azoturia: Causes, Symptoms, and Treatment Options

Azoturia is a rare genetic disorder that affects the body's ability to process certain amino acids, specifically branched-chain amino acids (BCAAs). It is caused by mutations in the BCKDH gene, which codes for an enzyme involved in the breakdown of BCAAs.

The condition is characterized by a range of symptoms, including developmental delays, intellectual disability, seizures, and metabolic problems such as hypoglycemia (low blood sugar) and hyperammonemia (elevated ammonia levels). Azoturia is usually diagnosed in infancy or early childhood, and treatment typically involves a combination of dietary restrictions and supplements to manage the symptoms.

The name "azoturia" comes from the Greek words "azote," meaning "nitrogen," and "uria," meaning "urine." This refers to the fact that people with this condition often have high levels of nitrogen-containing compounds in their urine, which can be a sign of the disorder.