Tetrahydrobiopterin therapy for phenylketonuria in infants and young children

Barbara K. Burton, Darius J. Adams, Dorothy K. Grange, John I. Malone, Elaina Jurecki, Heather Bausell, Kayt D. Marra, Laurie Sprietsma, Kathleen T. Swan

Research output: Contribution to journalArticlepeer-review

26 Scopus citations


Objective: To describe patient selection, treatment administration, response evaluation, and side effect management associated with sapropterin therapy in infants and children aged <4 years. Study design: Six case reports are presented from 4 US metabolic clinics treating phenylketonuria with sapropterin in patients aged 7 months to 4 years. Outcomes included blood phenylalanine (Phe) levels before and during treatment. For 3 of 6 cases, diet records were used to monitor changes in dietary Phe. Results: Severity of phenylketonuria ranged from mild to severe (classic). Treatment with sapropterin was safe and generally well tolerated. Blood Phe levels were reduced, or maximum dietary Phe tolerance was increased in patients with blood Phe that was well controlled by diet. Conclusions: Given the increasing evidence that maintaining blood Phe levels below 360 μmol/L is important for the normal development of neurocognitive and behavioral function, sapropterin can be combined with a Phe-restricted diet to control blood Phe levels in young patients responsive to sapropterin therapy.

Original languageEnglish (US)
Pages (from-to)410-415
Number of pages6
JournalJournal of Pediatrics
Issue number3
StatePublished - Mar 2011

ASJC Scopus subject areas

  • Pediatrics, Perinatology, and Child Health


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