Tetrahydrobiopterin deficiencies: A rare genetic disorder where insufficient levels of tetrahydropterin leads to a build up of phenylalanine in the blood which can cause toxic side effects such as nerve damage or even brain damage. The condition does not usually cause any significant symptoms. More detailed information about the symptoms, causes, and treatments of Tetrahydrobiopterin deficiencies is available below.
See full list of 11 symptoms of Tetrahydrobiopterin deficiencies
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Tetrahydrobiopterin deficiencies is listed as a "rare disease" by the Office of
Rare Diseases (ORD) of the National Institutes of Health
(NIH). This means that Tetrahydrobiopterin deficiencies, or a subtype of Tetrahydrobiopterin deficiencies,
affects less than 200,000 people in the US population.
Source - National Institutes of Health (NIH)
Ophanet, a consortium of European partners,
currently defines a condition rare when it affects 1 person per 2,000.
They list Tetrahydrobiopterin deficiencies as a "rare disease".
Source - Orphanet
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