Ornithine aminotransferase deficiency

Ornithine Aminotransferase Deficiency (OATD) is a rare genetic disorder that affects the body's ability to properly metabolize the amino acid ornithine. It is an autosomal recessive metabolic disorder that leads to an accumulation of ornithine in the blood and urine, causing various symptoms and complications. This condition is also known as Gyrate Atrophy of the Choroid and Retina due to its characteristic effects on the eyes.

Causes

Ornithine Aminotransferase Deficiency is caused by mutations in the OAT gene, which provides instructions for making the enzyme ornithine aminotransferase. This enzyme plays a crucial role in the urea cycle and the lysine degradation pathway, helping to convert ornithine into other substances that the body can use. When mutations in the OAT gene occur, the activity of ornithine aminotransferase is reduced or absent, leading to the accumulation of ornithine.

Symptoms

The most prominent symptoms of OATD are related to the eyes, including progressive vision loss, night blindness, and changes in the retina that can be observed during an eye examination. These changes typically begin in childhood or adolescence. If left untreated, the condition can lead to severe vision impairment or blindness. Other symptoms may include muscle weakness, developmental delay, and intellectual disability, although these are less common.

Diagnosis

Diagnosis of Ornithine Aminotransferase Deficiency involves a combination of clinical evaluation, family history, and genetic testing to identify mutations in the OAT gene. Biochemical tests that measure the levels of ornithine in the blood and urine are also crucial for diagnosis. Early diagnosis and treatment are important to manage symptoms and prevent progression of the disease.

Treatment

There is no cure for Ornithine Aminotransferase Deficiency, but treatment focuses on managing symptoms and preventing complications. Dietary management, including restriction of protein intake and supplementation with vitamin B6 (pyridoxine), which can sometimes increase the activity of the residual enzyme in some patients, is a common approach. Regular eye examinations are important to monitor the progression of retinal changes and initiate interventions that may help preserve vision.

Prognosis

The prognosis for individuals with Ornithine Aminotransferase Deficiency varies depending on the severity of the disease and the effectiveness of treatment. Early and ongoing management can help to slow the progression of symptoms and improve quality of life.

Ornithine aminotransferase deficiency Resources
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