Document Detail


BH(4) therapy impacts the nutrition status and intake in children with phenylketonuria: 2-year follow-up.
MedLine Citation:
PMID:  20941642     Owner:  NLM     Status:  In-Process    
Abstract/OtherAbstract:
The impact of tetrahydrobiopterin (BH(4)) treatment on phenylalanine tolerance, medical-food consumption, and nutrition status in patients with phenylketonuria (PKU) was investigated. Six children (5-12 years) with well-controlled PKU, responding to a BH(4) dose of 20 mg/kg per day, were assessed for 24 months. Mean dietary phenylalanine tolerance increased from 421 ± 128 to 1470 ± 455 mg/day. Height Z scores significantly improved from 0.25 ± 0.99 at baseline to 0.53 ± 1.16 at 24 months (p for trend < 0.001). Patients tolerated more phenylalanine and more intact protein and required less medical food (protein supplement). Improved linear growth and nutrition status was seen over the course of the 24-month follow-up. Due to the variation in phenylalanine tolerance, dietary recommendations should be tailored to the patient's individual requirements.
Authors:
Rani H Singh; Meghan E Quirk; Teresa D Douglas; Mary C Brauchla
Publication Detail:
Type:  Journal Article     Date:  2010-10-13
Journal Detail:
Title:  Journal of inherited metabolic disease     Volume:  33     ISSN:  1573-2665     ISO Abbreviation:  J. Inherit. Metab. Dis.     Publication Date:  2010 Dec 
Date Detail:
Created Date:  2010-11-29     Completed Date:  -     Revised Date:  -    
Medline Journal Info:
Nlm Unique ID:  7910918     Medline TA:  J Inherit Metab Dis     Country:  Netherlands    
Other Details:
Languages:  eng     Pagination:  689-95     Citation Subset:  IM    
Affiliation:
Department of Human Genetics, Emory University School of Medicine, Atlanta, GA 30030, USA. rsingh@emory.edu
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