title: Recommendations for the use of sapropterin in phenylketonuria.
abstract: Phenylketonuria (PKU) is an inherited disorder of phenylalanine (Phe) metabolism. Until recently, the only treatment for PKU was a Phe-restricted diet. Increasing evidence of suboptimal outcomes in diet-treated individuals, inconsistent PKU management practices, and the recent availability of tetrahydrobiopterin (BH(4)) therapy have fueled the need for new management and treatment recommendations for this metabolic disorder. BH(4), now available as sapropterin dihydrochloride (sapropterin), may offer the potential for improved metabolic control as well as enhanced dietary Phe tolerance in some PKU patients. A group of metabolic dietitians from North America convened in June 2011 to draft recommendations for the use of sapropterin therapy in PKU. Physicians with extensive experience in PKU management were invited at a later date to contribute to the development of these recommendations. Based on extensive clinical experience and current evidence, the present recommendations provide guidance from patient selection and determination of sapropterin response to the long-term management of patients on sapropterin therapy. Target Phe levels, nutritional adequacy, neurocognitive screening and adherence to treatment are addressed to optimize patient outcomes.
authors.affiliation: Tulane Hayward Genetics Center, New Orleans, LA, USA. acunnin@tulane.edu
authors.forename: Amy
authors.initials: A
authors.lastname: Cunningham
authors.forename: Heather
authors.initials: H
authors.lastname: Bausell
authors.forename: Mary
authors.initials: M
authors.lastname: Brown
authors.forename: Maggie
authors.initials: M
authors.lastname: Chapman
authors.forename: Kari
authors.initials: K
authors.lastname: DeFouw
authors.forename: Sharon
authors.initials: S
authors.lastname: Ernst
authors.forename: Julie
authors.initials: J
authors.lastname: McClure
authors.forename: Helen
authors.initials: H
authors.lastname: McCune
authors.forename: Donna
authors.initials: D
authors.lastname: O'Steen
authors.forename: Amy
authors.initials: A
authors.lastname: Pender
authors.forename: Jill
authors.initials: J
authors.lastname: Skrabal
authors.forename: Ann
authors.initials: A
authors.lastname: Wessel
authors.forename: Elaina
authors.initials: E
authors.lastname: Jurecki
authors.forename: Renée
authors.initials: R
authors.lastname: Shediac
authors.forename: Suyash
authors.initials: S
authors.lastname: Prasad
authors.forename: Jane
authors.initials: J
authors.lastname: Gillis
authors.forename: Stephen
authors.initials: S
authors.lastname: Cederbaum
mesh_terms: D001708:Biopterins / Q000031:analogs & derivatives* / Q000627:therapeutic use; D002675:Child, Preschool; D004032:Diet; D006801:Humans; D008991:Monitoring, Physiologic; D009656:North America; D010649:Phenylalanine / Q000097:blood; D010661:Phenylketonurias / Q000188:drug therapy*
chemical_list: D001708:Biopterins; D010649:Phenylalanine; C003402:sapropterin