Tetrahydrobiopterin may be a useful alternative to dietary restriction for mild hyperphenylalanemia or mild phenylketonuria (PKU), according to a preliminary report published in the Dec. 26 issue of the New England
Journal of Medicine.
“Hyperphenylalanemia is a common inherited metabolic disease that is due to phenylalanine hydroxylase deficiency,
and at least half the patients have mild clinical phenotypes,” write Ania C. Muntau, MD, and colleagues from Ludwig Maximilians University in Munich, Germany. “Treatment with a low phenylalanine diet represents a substantial psychosocial burden, but alternative treatments have not been effective.”
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