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, p00.006) while
maintaining good metabolic control (phe concentration in
dried blood 283±145 vs. 304±136 μM, p01.0). 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.
| Identifer | oai:union.ndltd.org:DRESDEN/oai:qucosa.de:bsz:15-qucosa-117262 |
| Date | 04 July 2013 |
| Creators | Ziesch, Birgit |
| Contributors | Universität Leipzig, Medizinische Fakultät, Prof. Dr. Wieland Kiess, Dr. Skadi Beblo, Dr. Johannes Weigel, unbekannt, unbekannt |
| Publisher | Universitätsbibliothek Leipzig |
| Source Sets | Hochschulschriftenserver (HSSS) der SLUB Dresden |
| Language | German, English |
| Detected Language | English |
| Type | doc-type:doctoralThesis |
| Format | application/pdf |
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