Hyperaminoacidemia

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Hyperaminoacidemia (pronounced as hi-per-am-ino-acid-em-ia) is a medical condition characterized by an excess of amino acids in the blood.

Etymology

The term "Hyperaminoacidemia" is derived from the Greek words "hyper" meaning over, "amino" referring to the amino acids, and "emia" meaning blood condition.

Definition

Hyperaminoacidemia is a metabolic disorder where there is an abnormally high concentration of amino acids in the blood. This condition can be caused by a variety of factors, including genetic disorders, liver disease, kidney disease, and certain types of cancer.

Symptoms

The symptoms of hyperaminoacidemia can vary greatly depending on the specific type of amino acid that is elevated. Common symptoms may include fatigue, nausea, vomiting, and neurological symptoms such as seizures and intellectual disability.

Diagnosis

Diagnosis of hyperaminoacidemia typically involves blood tests to measure the levels of amino acids in the blood. Genetic testing may also be performed to identify any genetic mutations that may be causing the condition.

Treatment

Treatment for hyperaminoacidemia typically involves dietary modifications to limit the intake of the specific amino acids that are elevated. In some cases, medications may be prescribed to help the body process these amino acids more effectively.

Related Terms

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