Ornithinaemia

Ornithinaemia is a rare metabolic disorder characterized by an excess of the amino acid ornithine in the blood. It is also known as Hyperornithinemia and is often associated with other metabolic disorders such as Hyperammonemia and Homocitrullinuria (HHH syndrome).

Causes

Ornithinaemia is caused by a deficiency in the enzyme ornithine translocase. This enzyme is responsible for the transport of ornithine across the mitochondrial membrane, a crucial step in the Urea cycle. When this enzyme is deficient, ornithine accumulates in the blood, leading to hyperornithinemia.

Symptoms

The symptoms of Ornithinaemia can vary greatly from person to person. Some individuals may be asymptomatic, while others may experience symptoms such as:

• Fatigue
• Nausea
• Vomiting
• Confusion
• Seizures
• Coma

Diagnosis

Diagnosis of Ornithinaemia is typically made through blood and urine tests that measure the levels of ornithine in the body. Genetic testing may also be used to confirm the diagnosis.

Treatment

Treatment for Ornithinaemia primarily involves dietary management to limit the intake of proteins and increase the intake of carbohydrates. Medications may also be used to help reduce the levels of ornithine in the blood.

Prognosis

The prognosis for individuals with Ornithinaemia varies. With early diagnosis and appropriate treatment, many individuals can lead normal lives. However, if left untreated, the condition can lead to serious health complications and may be life-threatening.

See also

• Urea cycle
• Metabolic disorder
• Amino acid

Ornithinaemia Resources
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