Ornithinaemia
Ornithinaemia
Ornithinaemia (pronounced: or-ni-thi-ne-mi-a), also known as Ornithine Transcarbamylase Deficiency (OTC deficiency), is a rare genetic disorder characterized by a deficiency of the enzyme ornithine transcarbamylase. This enzyme plays a crucial role in the urea cycle, which is the process by which the body eliminates toxic ammonia from the body.
Etymology
The term "Ornithinaemia" is derived from the Greek words "ornithine", which refers to the amino acid ornithine, and "-aemia", a suffix used in medical terminology to denote a condition of the blood. In this case, it refers to an excess of ornithine in the blood.
Symptoms
Symptoms of Ornithinaemia can vary greatly among affected individuals and can range from mild to severe. They may include but are not limited to: poor feeding, vomiting, developmental delay, intellectual disability, and liver disease. In severe cases, if left untreated, Ornithinaemia can lead to coma and death.
Diagnosis
Diagnosis of Ornithinaemia is typically made through biochemical genetic testing, which can identify mutations in the OTC gene that cause the disorder. Additional tests may include blood and urine tests to check for elevated levels of ammonia and ornithine.
Treatment
Treatment for Ornithinaemia primarily involves managing the symptoms and preventing complications. This may include a low-protein diet, medications to help remove ammonia from the body, and in severe cases, liver transplantation.
Related Terms
External links
- Medical encyclopedia article on Ornithinaemia
- Wikipedia's article - Ornithinaemia
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