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Hyperphenylalaninemia due to 6-pyruvoyltetrahydropterin synthase deficiency (medical condition): A rare genetic disorder where insufficient levels of tetrahydropterin leads to...more »
See also:
6-pyruvoyl-tetrahydropterin synthase deficiency:
»Introduction: 6-pyruvoyl-tetrahydropterin synthase deficiency
»Symptoms of 6-pyruvoyl-tetrahydropterin synthase deficiency
These medical condition or symptom topics may be relevant to medical information for Hyperphenylalaninemia due to 6-pyruvoyltetrahydropterin synthase deficiency:
Hyperphenylalaninemia due to 6-pyruvoyltetrahydropterin synthase deficiency is listed as a "rare disease" by the Office of
Rare Diseases (ORD) of the National Institutes of Health
(NIH). This means that Hyperphenylalaninemia due to 6-pyruvoyltetrahydropterin synthase deficiency, or a subtype of Hyperphenylalaninemia due to 6-pyruvoyltetrahydropterin synthase deficiency,
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 if affects 1 person per 2,000.
They list Hyperphenylalaninemia due to 6-pyruvoyltetrahydropterin synthase deficiency as a "rare disease".
Source - Orphanet
Hyperphenylalaninemia due to 6-pyruvoyltetrahydropterin synthase deficiency: Another name for 6-pyruvoyl-tetrahydropterin synthase deficiency (or close medical condition association).
»Introduction: 6-pyruvoyl-tetrahydropterin synthase deficiency
»Symptoms of 6-pyruvoyl-tetrahydropterin synthase deficiency
Hyperphenylalaninemia due to 6-pyruvoyltetrahydropterin synthase deficiency: Hyperphenylalaninemia due to 6-pyruvoyltetrahydropterin synthase deficiency is listed as a type of (or associated with) the following medical conditions in our database:
Some of the symptoms of Hyperphenylalaninemia due to 6-pyruvoyltetrahydropterin synthase deficiency incude:
Read more about symptoms of Hyperphenylalaninemia due to 6-pyruvoyltetrahydropterin synthase deficiency (6-pyruvoyl-tetrahydropterin synthase deficiency)
Source - NIH
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