Tetrahydrobiopterin Deficiency

National Dysautonomia Research Foundation
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Tetrahydrobiopterin Deficiency

Tetrahydrobiopterin Deficiency: is a defect in enzymes that are required for the synthesis of catecholomines, resulting in a deficiency in neurotransmitters. Symptoms begin between two and eight months of age, and include unstable body temperature, swallowing difficulties, hypersalivation, pinpoint pupils, ptosis of the eyelids, decreased mobility, drowsiness, and irritability.

For additional, detailed, information on tetrahydrobiopterin deficiency, the following site is suggested:

The Tetrahydrobiopterin Home Page
University Children's Hospital
Zürich Switzerland

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The National Dysautonomia Research Foundation (NDRF) has established this site to help inform afflicted patients, physicians and the general public on the various forms of Dysautonomia. It is our desire to give timely, as well as, accurate information, however NDRF will not be responsible for the misinterpretation of the information provided. Questions or problems regarding this web site should be directed to .

Medical questions and information, should be reviewed with your physician.