Improved metabolic control in tetrahydrobiopterin (BH4), responsive phenylketonuria with sapropterin administered in two divided doses vs. a single daily dose
-
Deniz Kör
,
Berna Şeker Yılmaz
Abstract
Background:
Phenylketonuria (PKU) often requires a lifelong phenylalanine (Phe)-restricted diet. Introduction of 6R-tetrahydrobiopterin (BH4) has made a huge difference in the diets of patients with PKU. BH4 is the co-factor of the enzyme phenylalanine hydroxylase (PAH) and improves PAH activity and, thus, Phe tolerance in the diet. A limited number of published studies suggest a pharmacodynamic profile of BH4 more suitable to be administered in divided daily doses.
Methods:
After a 72-h BH4 loading test, sapropterin was initiated in 50 responsive patients. This case-control study was conducted by administering the same daily dose of sapropterin in group 1 (n=24) as a customary single dose or in two divided doses in group 2 (n=26) over 1 year.
Results:
Mean daily consumption of Phe increased significantly after the first year of BH4 treatment in group 2 compared to group 1 (p<0.05). At the end of the first year of treatment with BH4, another dramatic difference observed between the two groups was the ability to transition to a Phe-free diet. Eight patients from group 2 and two from group 1 could quit dietary restriction.
Conclusions:
When given in two divided daily doses, BH4 was more efficacious than a single daily dose in increasing daily Phe consumption, Phe tolerance and the ability to transition to a Phe-unrestricted diet at the end of the first year of treatment.
Author contributions: All the authors have accepted responsibility for the entire content of this submitted manuscript and approved submission.
Research funding: None declared.
Employment or leadership: None declared.
Honorarium: None declared.
Competing interests: The funding organization(s) played no role in the study design; in the collection, analysis and interpretation of data; in the writing of the report; or in the decision to submit the report for publication.
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©2017 Walter de Gruyter GmbH, Berlin/Boston
Artikel in diesem Heft
- Frontmatter
- Original Articles
- High prevalence of organ specific autoantibodies in Indian type 1 diabetic patients
- Improved metabolic control in tetrahydrobiopterin (BH4), responsive phenylketonuria with sapropterin administered in two divided doses vs. a single daily dose
- Excessive weight gain in exclusively breast-fed infants
- Comparison of Tanner staging of HIV-infected and uninfected girls at the University of Nigeria Teaching Hospital, Ituku/Ozalla, Enugu, Nigeria
- Joint association of screen time and physical activity with anthropometric measures in Iranian children and adolescents: the weight disorders survey of the CASPIAN-IV study
- Assessment of insulin like growth factor-1 and IGF binding protein-3 in healthy Indian girls from Delhi and their correlation with age, pubertal status, obesity and thyroid hormonal status
- Impact of discontinuation of growth hormone treatment on lipids and weight status in adolescents
- Clinical, biochemical and genetic features with nonclassical 21-hydroxylase deficiency and final height
- A combined approach to generate laboratory reference intervals using unbalanced longitudinal data
- Clinical evaluation and mutational analysis of GALK and GALE genes in patients with galactosemia in Greece: one novel mutation and two rare cases
- Case Reports
- Pediatric toxic polycystic thyroid
- In utero virilization secondary to a maternal Krukenberg tumor: case report and review of literature
- Postprandial hyperinsulinemic hypoglycemia in a child as a late complication of esophageal reconstruction
- Long-term follow-up of a child with Klinefelter syndrome and achondroplasia from infancy to 16 years
Artikel in diesem Heft
- Frontmatter
- Original Articles
- High prevalence of organ specific autoantibodies in Indian type 1 diabetic patients
- Improved metabolic control in tetrahydrobiopterin (BH4), responsive phenylketonuria with sapropterin administered in two divided doses vs. a single daily dose
- Excessive weight gain in exclusively breast-fed infants
- Comparison of Tanner staging of HIV-infected and uninfected girls at the University of Nigeria Teaching Hospital, Ituku/Ozalla, Enugu, Nigeria
- Joint association of screen time and physical activity with anthropometric measures in Iranian children and adolescents: the weight disorders survey of the CASPIAN-IV study
- Assessment of insulin like growth factor-1 and IGF binding protein-3 in healthy Indian girls from Delhi and their correlation with age, pubertal status, obesity and thyroid hormonal status
- Impact of discontinuation of growth hormone treatment on lipids and weight status in adolescents
- Clinical, biochemical and genetic features with nonclassical 21-hydroxylase deficiency and final height
- A combined approach to generate laboratory reference intervals using unbalanced longitudinal data
- Clinical evaluation and mutational analysis of GALK and GALE genes in patients with galactosemia in Greece: one novel mutation and two rare cases
- Case Reports
- Pediatric toxic polycystic thyroid
- In utero virilization secondary to a maternal Krukenberg tumor: case report and review of literature
- Postprandial hyperinsulinemic hypoglycemia in a child as a late complication of esophageal reconstruction
- Long-term follow-up of a child with Klinefelter syndrome and achondroplasia from infancy to 16 years
