Use

The SLC25A15 Deletion/Duplication Analysis is performed to identify pathogenic deletions and duplications associated with hyperornithinemia-hyperammonemia-homocitrullinuria. This condition, also known as ornithine translocase deficiency, leads to toxic ammonia accumulation due to enzyme deficiency. Severity varies, but onset can occur in infancy with severe outcomes. Symptoms include energy deficiency, vomiting, seizures, and coordination issues, often triggered by high-protein diets. Untreated cases may lead to developmental challenges. Clinical management focuses on dietary restrictions and lifelong medical monitoring, enhancing growth and quality of life for affected individuals.