Hyperammonemia due to carbamoyl phosphate is one of a set of conditions known as urea cycle disorders. A crucial liver enzyme is absent in people who lack hyperammonemia due to carbamoyl phosphate. Hyperammonemia, which results from this, raises the blood's ammonia levels and can be dangerous, particularly for the brain.The majority of affected people (those with the neonatal-onset form) will exhibit symptoms withi  Read More

Hyperammonemia due to ornithine transcarbamylase deficiency, is when a newborn with an unexplained sickness that includes vomiting, progressive lethargy, and irritability should have an hyperammonemia due to ornithine transcarbamylase deficiency assessed. Blood tests may show abnormally high levels of ammonia, which is a sign of a problem with the urea cycle. However, other diseases such as organic acidemias, cong  Read More

Wilson's disease is present at birth, but signs and symptoms don't appear until the copper builds up in the brain, liver or other organ. Signs and symptoms vary depending on the parts of your body affected by the disease. They can include: Fatigue, lack of appetite or abdominal pain A yellowing of the skin and the whites of the eye (jaundice) Golden-brown eye discoloration (Kayser-Fleischer rings) F  Read More