Hyperornithinemia

Hyperornithinemia

Hyperornithinemia (pronounced: hi-per-or-ni-thi-ne-mi-a) is a rare metabolic disorder characterized by an excess of the amino acid ornithine in the blood.

Etymology

The term "Hyperornithinemia" is derived from the Greek words "hyper" meaning over, "ornithine" referring to the amino acid ornithine, and "emia" meaning presence in blood.

Definition

Hyperornithinemia is a condition that occurs when there is an abnormally high level of ornithine in the blood. Ornithine is an amino acid that plays a crucial role in the urea cycle, which is the process by which the body eliminates excess nitrogen.

Symptoms

Symptoms of hyperornithinemia can vary greatly among individuals. They may include neurological symptoms such as seizures, intellectual disability, and poor coordination. Some individuals may also experience vision loss due to a condition known as gyrate atrophy of the retina.

Causes

Hyperornithinemia is caused by mutations in the Ornithine Aminotransferase (OAT) gene. This gene provides instructions for making an enzyme that is involved in the breakdown of ornithine. Mutations in the OAT gene disrupt the normal function of the enzyme, leading to an accumulation of ornithine in the blood.

Diagnosis

Diagnosis of hyperornithinemia is typically made through biochemical testing, which involves measuring the levels of ornithine in the blood. Genetic testing may also be performed to identify mutations in the OAT gene.

Treatment

Treatment for hyperornithinemia primarily involves managing the symptoms. This may include medications to control seizures, physical therapy for coordination problems, and regular eye exams to monitor for vision loss. A low-protein diet may also be recommended to reduce the amount of ornithine in the blood.

Related Terms

• Ornithine
• Urea cycle
• Neurological
• Vision loss
• Gyrate atrophy
• Ornithine Aminotransferase
• Biochemical
• Genetic testing

External links

• Medical encyclopedia article on Hyperornithinemia
• Wikipedia's article - Hyperornithinemia

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