Document Detail

Tetrahydrobiopterin therapy for phenylketonuria in infants and young children.
MedLine Citation:
PMID:  20884009     Owner:  NLM     Status:  MEDLINE    
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.
Barbara K Burton; Darius J Adams; Dorothy K Grange; John I Malone; Elaina Jurecki; Heather Bausell; Kayt D Marra; Laurie Sprietsma; Kathleen T Swan
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Publication Detail:
Type:  Case Reports; Journal Article; Multicenter Study; Research Support, Non-U.S. Gov't    
Journal Detail:
Title:  The Journal of pediatrics     Volume:  158     ISSN:  1097-6833     ISO Abbreviation:  J. Pediatr.     Publication Date:  2011 Mar 
Date Detail:
Created Date:  2011-02-14     Completed Date:  2011-04-05     Revised Date:  2011-05-26    
Medline Journal Info:
Nlm Unique ID:  0375410     Medline TA:  J Pediatr     Country:  United States    
Other Details:
Languages:  eng     Pagination:  410-5     Citation Subset:  AIM; IM    
Copyright Information:
Copyright © 2011 Mosby, Inc. All rights reserved.
Department of Pediatrics, Northwestern University Feinberg School of Medicine and PKU Clinic, Children's Memorial Hospital, Chicago, IL 60614-3363, USA.
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MeSH Terms
Biopterin / administration & dosage,  adverse effects,  analogs & derivatives*,  therapeutic use
Child, Preschool
Patient Selection
Phenylalanine / blood
Phenylketonurias / drug therapy*
Treatment Outcome
Reg. No./Substance:
17528-72-2/5,6,7,8-tetrahydrobiopterin; 22150-76-1/Biopterin; 63-91-2/Phenylalanine
Comment In:
J Pediatr. 2011 May;158(5):864; author reply 864-5   [PMID:  21324389 ]
J Pediatr. 2011 Mar;158(3):351-3   [PMID:  21030037 ]

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