Phenylketonuria (PKU) is a rare inherited metabolic disorder, where subjects are born with a genetic deficiency in the phenylalanine hydroxylase enzyme (PAH), which leaves them unable to convert Phenylalanine (Phe) into Tyrosine (Tyr). PKU patients have specific dietary needs and must follow a restrictive diet in the aim of preventing toxic levels of the amino acid phenylalanine (Phe) accumulation.
The aim of this explorative cross-sectional study is to gain quantitative insights on blood nutrient levels of adult PKU patients on a protein substitute.
Study Type
OBSERVATIONAL
Enrollment
71
UZ Gent
Ghent, Belgium
Rigshospitalet
Copenhagen, Denmark
Úniversity Clinical Hospital
Santiago de Compostela, Spain
Hospital Universitario Virgen del Rocio
Seville, Spain
Blood nutritional status
Micro-and macronutrients and amino acid levels \[in a.o. mg/L\]
Time frame: day 1
Blood nutritional status
Phe/Tyr ratio \[µmol/L\]
Time frame: day 1
Nutrient intake
measured by three-day food diary. Nutrients in \[mg/day\]
Time frame: day 1 - day 7
Subjective cognitive well-being
measured by FACT-Cog questionnaire: \[four domains \[score-range): 1) patients' perceived cognitive impairments \[0-80\]; 2) perceived cognitive abilities \[0-36\]; 3) noticeability or comments from others \[0-16\]; 4) impact of cognitive changes on quality of life \[0-16\]. A summary score is obtained by summing all item scores \[0-148\].
Time frame: day 1 - day 7
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