Hypertryptophanemia

Hypertryptophanemia is a rare metabolic disorder characterized by an excess of the amino acid tryptophan in the blood. This condition can lead to a variety of symptoms, including intellectual disability, muscle weakness, and movement disorders. The exact cause of hypertryptophanemia is currently unknown, but it is believed to be related to a defect in the body's ability to metabolize tryptophan.

Symptoms

The symptoms of hypertryptophanemia can vary widely, but often include:

• Intellectual disability
• Muscle weakness
• Movement disorders
• Seizures
• Behavioral problems

Causes

The exact cause of hypertryptophanemia is currently unknown. However, it is believed to be related to a defect in the body's ability to metabolize the amino acid tryptophan. This can lead to an excess of tryptophan in the blood, which can then cause the symptoms associated with this condition.

Diagnosis

Hypertryptophanemia is typically diagnosed through a blood test that measures the levels of tryptophan in the blood. If these levels are found to be abnormally high, a diagnosis of hypertryptophanemia may be made.

Treatment

Treatment for hypertryptophanemia typically involves managing the symptoms of the condition. This can include medications to control seizures, physical therapy to improve muscle strength, and behavioral therapy to address behavioral problems.

See also

• Amino acid disorder
• Metabolic disorder
• Tryptophan

Hypertryptophanemia Resources
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