Sapropterin dihydrochloride in maternal phenylketonuria

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Feillet F et al. Use of sapropterin dihydrochloride in maternal phenylketonuria. A European experience of eight cases. J Inherit Metab Dis. 2014 May 1. [Epub ahead of print] Feillet et al describe the use of sapropterin dihydrochloride during pregnancy in eight cases of maternal phenylketonuria. Seven of eight patients (who were known to be responsive to sapropterin dihydrochloride) had normal pregnancies and gave birth to healthy newborns; no complications attributable to the medication were seen, and metabolic control seems to have been facilitated by the treatment. The eighth had a catastrophic outcome (Potter syndrome and neonatal death) due to a late diagnosis of pregnancy, with uncontrolled phenylalanine levels in the first trimester and phenylalanine embryopathy. These observations suggest that sapropterin dihydrochloride is safe and effective in pregnant patients previously determined to be responsive to it. As the unfortunate eighth case study illustrates, the stakes in this clinical situation are high; if the same favourable profile is borne out by larger studies, sapropterin dihydrochloride will be an extremely useful tool for metabolic control in pregnant responsive patients. Posted by Alina Levtova, MD

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