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Journal of Inherited Metabolic Disease

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01.11.2012 | Original Article

Tetrahydrobiopterin (BH₄) in PKU: effect on dietary treatment, metabolic control, and quality of life

verfasst von: B. Ziesch, J. Weigel, A. Thiele, U. Mütze, C. Rohde, U. Ceglarek, J. Thiery, W. Kiess, S. Beblo

Erschienen in: Journal of Inherited Metabolic Disease | Ausgabe 6/2012

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Abstract

Background

Tetrahydrobiopterin (BH₄)-sensitive phenylketonuria (PKU) can be treated with sapropterin dihydrochloride. We studied metabolic control and health-related quality of life (HRQoL) in PKU patients treated with BH₄.

Subjects and methods

Based on the review of neonatal BH₄ test results and mutation analysis in 41 PKU patients, 19 were identified as potentially BH₄-sensitive (9 females, 10 males, age 4–18 years). We analyzed phenylalanine (phe) concentrations in dried blood samples, nutrition protocols, and HRQoL questionnaires (KINDL^®) beginning from 1 year before, during the first 42 days, and after 3 months of BH₄ therapy.

Results

Eight BH₄-sensitive patients increased their phe tolerance (629 ± 476 vs. 2131 ± 1084 mg, p = 0.006) while maintaining good metabolic control (phe concentration in dried blood 283 ± 145 vs. 304 ± 136 μM, p = 1.0). Six of them were able to stop dietary protein restriction entirely. BH₄-sensitive patients had average HRQoL scores that were comparable to age-matched healthy children. There was no improvement in HRQoL scores after replacing classic dietary treatment with BH₄ supply, although personal reports given by the patients and their parents suggest that available questionnaires are inappropriate to detect aspects relevant to inborn metabolic disorders.

Discussion

BH₄ can allow PKU patients to increase their phe consumption significantly or even stop dietary protein restrictions. Unexpectedly, this does not improve HRQoL as assessed with KINDL^®, partly due to high scores even before BH₄ therapy. Specific questionnaires should be developed for inborn metabolic disorders.

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Titel: Tetrahydrobiopterin (BH4) in PKU: effect on dietary treatment, metabolic control, and quality of life
verfasst von: B. Ziesch
J. Weigel
A. Thiele
U. Mütze
C. Rohde
U. Ceglarek
J. Thiery
W. Kiess
S. Beblo
Publikationsdatum: 01.11.2012
Verlag: Springer Netherlands
Erschienen in: Journal of Inherited Metabolic Disease / Ausgabe 6/2012
Print ISSN: 0141-8955
Elektronische ISSN: 1573-2665
DOI: https://doi.org/10.1007/s10545-012-9458-1

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Background

Subjects and methods

Results

Discussion

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