Pharmacologic approch to PKU?

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We often look at the inborn errors of metabolism such as phenylketonuria (PKU) as “single gene disorders,” assuming that their phenotypes are fairly consistent. A small study by Blau and Fiege in the current issue of The Journal reminds us that this is not always the case.

These workers have expanded on some existing information, which has suggested that there is a subset of patients with PKU in whom treatment with 6R-tetrahydrobiopterin (BH4) can lower blood phenylalanine levels. The study is a very technical one, and BH4 is not widely available at this point. Nonetheless, this work suggests that there may well come a time when some children with PKU may be managed with drug therapy or a combination of drug therapy and dietary intervention.

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