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[Blood phenylalanine greater than 1200 mumol/L usually indicates severe deficiency of phenylalanine hydroxylase and is often called `classical PKU.` Blood phenylalanine levels between 600 and 1200 mumol/L lead to `atypical PKU.` Cases where blood phenylalanine remains between 120 and 480 mumol/L on a normal diet are termed `benign hyperphenylalaninemia.` A deficiency of the cofactor tetrahydrobiopterin (BH4), which is required for phenylalanine hydroxylase activity, leads to hyperphenylalaninemia.]. Sentence from MEDLINE/PubMed, a database of the U.S. National Library of Medicine.
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