PKU amino-acid evaluation in children with PKU on a protein substitute
Research type
Research Study
Full title
A cross-sectional study to measure blood amino acid levels in children with PKU on a protein substitute
IRAS ID
289938
Contact name
Anita MacDonald
Contact email
Sponsor organisation
Danone Nutricia Research
Clinicaltrials.gov Identifier
Duration of Study in the UK
0 years, 11 months, 31 days
Research summary
Study Summary:
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 the study is to get insight in the nutritional status of children with Phenylketonuria (PKU) as compared to Non-PKU children. The restrictive diet is combined with amino acid mixtures/protein substitutes to achieve recommended daily nutrient intake.
To improve the understanding of nutritional needs of children with PKU using protein substitutes, we would like to collect information about blood nutrient concentrations (1 blood sample) and the daily dietary intake (one 3 day food diary). The results of this study can be used to determine the nutritional status of children with PKU and for the development of future PKU products and studies.
In total 18 PKU patients and 18 healthy volunteers will be included globally.Summary of study results:
A total of 19 children with PKU and 18 children without PKU (control group) from different countries participated in this study. There were similar numbers of girls and boys participating in each group. The average age of all participating children was 7 years; the youngest was 2 and the eldest 12 years old.The amount of amino acids in participants was measured to determine the difference between the PKU group and the control group. The amount of amino acids in the blood was similar in the PKU and control group for 17 out of 22 amino acids measured. Only the amount of phenylalanine was higher in the PKU group. For 5 out of 22 amino acids measured, the amount in the blood was lower in the PKU group compared to the control group.
Based on the 3-day diet diary you filled out, the intake of nutrients was compared between the PKU group and control group. The intake of amino acids, energy and macronutrients, minerals, and vitamins was generally higher in the PKU group. No difference was found between the PKU and control group for intake of protein, folic acid, folate, and vitamin B12. Children with PKU obtained the major part of their vitamins, minerals, lipids (fats), and protein from protein substitutes.
No health issues were reported during this study.
No health concerns were observed in this study.REC name
North West - Greater Manchester West Research Ethics Committee
REC reference
21/NW/0006
Date of REC Opinion
18 Mar 2021
REC opinion
Further Information Favourable Opinion