. . . . . . . . . . . . "[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."@en . . . . . "2014-02-25"^^ . . "Gene-disease associations inferred from text-mining the literature."@en . "DisGeNET evidence - LITERATURE"@en . "2014-10-02T12:34:16+02:00"^^ . . . . . . . . . . . "v2.1.0.0" . "v2.1.0" .