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Tetrahydrobiopterin Deficiency

What is tetrahydrobiopterin deficiency?

Tetrahydrobiopterin deficiency is a rare disorder that increases the levels of several substances, including phenylalanine, in the blood. Phenylalanine is a building block of proteins (an amino acid) that is obtained through the diet. It is found in all proteins and in some artificial sweeteners. If tetrahydrobiopterin deficiency is not treated, phenylalanine can build up to harmful levels in the body, causing intellectual disability and other serious health problems.

What are the symptoms of tetrahydrobiopterin deficiency?

High levels of phenylalanine are present from early infancy in people with untreated tetrahydrobiopterin deficiency. Infants with this condition appear normal at birth, but medical problems ranging from mild to severe become apparent over time.

The signs and symptoms of this condition can include:

  • intellectual disability,

  • progressive problems with development,

  • movement disorders,

  • difficulty swallowing,

  • seizures,

  • behavioral problems, and

  • an inability to control body temperature.



Next: How common is tetrahydrobiopterin deficiency? »

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Tetrahydrobiopterin Deficiency

Swallowing Problems »

Swallowing problems overview

The swallowing tract extends from the mouth to the stomach. The act of swallowing normally occurs in three phases. In the first phase, food or liquid is contained in the mouth by the tongue and palate (oral cavity). This phase is the only one we can control.

The second phase of swallowing begins when the brain makes the decision to swallow. At this point, a complex series of reflexes begin. The food is thrust from the oral cavity into the throat (pharynx). At the same time, two other events occur: A muscular valve at the bottom of the pharynx opens, allowing food to enter the swallowing tube (esophagus), and other muscles close the airway (trachea) to prevent food from entering the airways. This second phase of swallowing takes less than half a second.

The third phase of swallowing begins when food enters the esophagus. The esophagus, which is about nine inches long, is a muscular tube that produces wav...

Read the Swallowing Problems article »


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