Tetrahydrobiopterin deficiency
Tetrahydrobiopterin deficiency (pronounced as tet-ra-hy-dro-bio-pter-in de-fi-cien-cy) is a rare inherited disorder that increases the levels of several substances, including phenylalanine, in the blood.
Etymology
The term "Tetrahydrobiopterin" is derived from the chemical structure of the compound, which consists of a pterin ring system, with four hydrogens added, hence "tetrahydro". The term "deficiency" comes from the Latin word "deficientia", meaning "a lack or shortage".
Overview
Tetrahydrobiopterin deficiency is characterized by abnormally high levels of the amino acid phenylalanine in the blood due to a shortage (deficiency) of the molecule tetrahydrobiopterin. Tetrahydrobiopterin is a critical co-factor in the metabolism of phenylalanine. Without sufficient tetrahydrobiopterin, phenylalanine accumulates in and damages the brain, leading to neurological complications.
Symptoms
Symptoms of Tetrahydrobiopterin deficiency include intellectual disability, movement disorders, difficulty swallowing, seizures, behavioral problems, and an inability to control body temperature.
Causes
Tetrahydrobiopterin deficiency is caused by mutations in the GCH1, PCBD1, PTS, or QDPR genes. These genes are involved in the production of tetrahydrobiopterin. Mutations in any of these genes reduce or eliminate the function of this molecule, leading to the symptoms of the disorder.
Diagnosis
Diagnosis of Tetrahydrobiopterin deficiency is based on the symptoms, genetic testing, and measurement of phenylalanine levels in the blood.
Treatment
Treatment for Tetrahydrobiopterin deficiency involves a diet low in phenylalanine and supplementation with tetrahydrobiopterin.
See also
External links
- Medical encyclopedia article on Tetrahydrobiopterin deficiency
- Wikipedia's article - Tetrahydrobiopterin deficiency
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