Hypertryptophanemia

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Hypertryptophanemia

Hypertryptophanemia (/ˌhaɪpərˌtrɪptoʊfəˈniːmiə/) is a rare metabolic disorder characterized by an excess of the amino acid tryptophan in the blood.

Etymology

The term "Hypertryptophanemia" is derived from the Greek words "hyper" meaning over, "tryptophan" referring to the amino acid tryptophan, and "emia" meaning condition of the blood.

Definition

Hypertryptophanemia is a condition in which there is an abnormally high level of the essential amino acid tryptophan in the blood. Tryptophan is necessary for the production of several important substances in the body, including the neurotransmitter serotonin and the vitamin niacin.

Symptoms

Symptoms of hypertryptophanemia can vary widely, depending on the severity of the condition. They may include neurological symptoms such as seizures, developmental delay, and intellectual disability.

Causes

Hypertryptophanemia can be caused by a variety of factors, including genetic mutations that affect the body's ability to metabolize tryptophan. It can also be caused by dietary factors, such as consuming a diet high in tryptophan-rich foods.

Diagnosis

Diagnosis of hypertryptophanemia is typically made through blood tests that measure the level of tryptophan in the blood. Genetic testing may also be used to identify any genetic mutations that may be causing the condition.

Treatment

Treatment for hypertryptophanemia typically involves dietary modifications to reduce the intake of tryptophan. In some cases, medications may be used to help the body metabolize tryptophan more effectively.

See also

External links

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