Tetrahydrobiopterin therapy for phenylketonuria in infants and young children

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

Research output: Contribution to journalArticle

24 Citations (Scopus)

Abstract

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
Volume158
Issue number3
DOIs
StatePublished - Mar 1 2011
Externally publishedYes

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Phenylketonurias
Phenylalanine
Therapeutics
Diet
Diet Records
sapropterin
Patient Selection

All Science Journal Classification (ASJC) codes

  • Pediatrics, Perinatology, and Child Health

Cite this

Burton, B. K., Adams, D., Grange, D. K., Malone, J. I., Jurecki, E., Bausell, H., ... Swan, K. T. (2011). Tetrahydrobiopterin therapy for phenylketonuria in infants and young children. Journal of Pediatrics, 158(3), 410-415. https://doi.org/10.1016/j.jpeds.2010.08.016
Burton, Barbara K. ; Adams, Darius ; Grange, Dorothy K. ; Malone, John I. ; Jurecki, Elaina ; Bausell, Heather ; Marra, Kayt D. ; Sprietsma, Laurie ; Swan, Kathleen T. / Tetrahydrobiopterin therapy for phenylketonuria in infants and young children. In: Journal of Pediatrics. 2011 ; Vol. 158, No. 3. pp. 410-415.
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Burton, BK, Adams, D, Grange, DK, Malone, JI, Jurecki, E, Bausell, H, Marra, KD, Sprietsma, L & Swan, KT 2011, 'Tetrahydrobiopterin therapy for phenylketonuria in infants and young children', Journal of Pediatrics, vol. 158, no. 3, pp. 410-415. https://doi.org/10.1016/j.jpeds.2010.08.016

Tetrahydrobiopterin therapy for phenylketonuria in infants and young children. / Burton, Barbara K.; Adams, Darius; Grange, Dorothy K.; Malone, John I.; Jurecki, Elaina; Bausell, Heather; Marra, Kayt D.; Sprietsma, Laurie; Swan, Kathleen T.

In: Journal of Pediatrics, Vol. 158, No. 3, 01.03.2011, p. 410-415.

Research output: Contribution to journalArticle

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AU - Burton, Barbara K.

AU - Adams, Darius

AU - Grange, Dorothy K.

AU - Malone, John I.

AU - Jurecki, Elaina

AU - Bausell, Heather

AU - Marra, Kayt D.

AU - Sprietsma, Laurie

AU - Swan, Kathleen T.

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N2 - 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.

AB - 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.

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