hyperornithinemia-hyperammonemia-homocitrullinuria syndrome
Hyperornithinemia-hyperammonemia-homocitrullinuria syndrome is a rare genetic disorder caused by a deficiency in the enzyme ornithine transcarbamylase. This condition leads to an accumulation of ornithine and ammonia in the blood, which can result in neurological symptoms and other health issues.
Individuals with this syndrome may also excrete high levels of homocitrulline in their urine. Symptoms can vary widely but often include developmental delays, seizures, and other neurological problems. Early diagnosis and management are crucial to prevent severe complications associated with elevated ammonia levels.