PKU Start
Research type
Research Study
Full title
A study to evaluate the acceptability of a new phenylalanine free infant formula for use in the dietary management of Phenylketonuria in infants from birth to 2 year of age with regard to product tolerance and adherence.
IRAS ID
209920
Contact name
Anita MacDonald
Contact email
Sponsor organisation
Vitaflo International Ltd
Duration of Study in the UK
0 years, 1 months, 15 days
Research summary
Phenylketonuria is a group of recessively inherited disorders, characterised by a deficiency of the liver enzyme phenylalanine hydroxylase, necessary for the conversion of the essential amino acid phenylalanine to tyrosine. The biochemical consequences of this deficiency are the accumulation of Phe and its by-products in the blood and a relative deficiency of tyrosine, which then becomes an essential amino acid.
If left untreated, the early manifestations of PKU include microcephaly, severe developmental delay and epilepsy. Due to this, many countries have new-born screening programmes for early detection.
The goal of nutritional management of those with PKU is maintaining plasma Phe concentrations that support optimal growth, development and mental functioning, while providing a nutritionally complete diet, and with adequate treatment the outcome is very good.
The provision of a suitable Phe-free protein source is essential for these patients; for the majority, the protein substitute provides >75% of their total protein intake.
Given that a protein substitute is used in combination with breast milk and/or standard formula, it is advantageous that its nutritional composition is comparable to that of breast milk.
At diagnosis, if blood Phe levels are >1000µmol/l an infant would stop all natural sources of protein to ensure a rapid fall in plasma Phe levels to prevent the long-term complications of high levels. Once plasma Phe levels are below 600µmol/l a source of natural protein, breast milk or standard infant formula, can be reintroduced.
PKU Start, which closely resembles the nutritional profile of standard infant formula, except for the exclusion of phenylalanine. has been developed to comply with all relevant European and worldwide regulations for infant formula. In the UK, there is only one Phe-free infant protein substitute available on prescription. Vitaflo has developed PKU Start to provide health care professionals with additional choice when prescribing such a protein substitute.
REC name
North West - Liverpool Central Research Ethics Committee
REC reference
17/NW/0035
Date of REC Opinion
1 Feb 2017
REC opinion
Favourable Opinion