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Tetrahydrobiopterin (BH4) is the cofactor of phenylalanine hydroxylase (PAH) and sapropterin dihydrochloride (6R-BH4) is a biologically active synthetic form of BH4. Some patients with phenylketonuria (PKU) have a reduction in serum concentration of phenylalanine on treatment with sapropterin. This responsiveness probably depends on the individual mutation in the PAH gene but …
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