Literature review for - Flourish Paediatrics

Phenylketonuria (PKU) in Infants
Search Terms
The initial search of the databases included 39 references on PKU and infant feeding. Data
were extracted from 9 publications, and have been summarized below. Evidence was
insufficient to develop a body of evidence statement.
Notes on infants with PKU
A study by Riva and colleagues demonstrated that the type of feeding of the infant prior to
diagnosis plays a key role in outcomes (Riva, Agostoni et al. 1996). The study compared IQ
scores of PKU children that were breastfed before diagnosis with children that were bottle fed
before diagnosis. Breastfeeding, although practised for only a short period (20–40 days), had
a beneficial effect on the behavioural development of the children studied. PKU children who
had been breastfed as infants prior to diagnosis scored significantly better (IQ advantage of
14.0 points, p = 0.01) than children who had been formula fed. A 12.9-point advantage
persisted also after adjusting for social and maternal education status. Components of
breastmilk have been identified as possible explanations such as its lower content of
Phenylalanine (Phe) compared with standard infant formulas, the optimal Phe/Tyr ratio, and
its rich source of LC-PUFAs, particularly AA and DHA (Giovannini, Verduci et al. 2007).
Early supplementation with preformed LC-PUFA could be of benefit to infants with PKU
that are not being breastfed. An RCT by Agostoni and colleagues evaluated the effects of
LC-PUFA supplementation in infants with PKU. The finding showed that a phenylalaninefree
formula supplemented with LC-PUFA positively influenced erythrocyte DHA status in
PKU infants (Agostoni, Harvie et al. 2006).
Prevalence of PKU in Australia
In Australia there is an incidence of one in every 10,000 to 14,000 births, 1 in 50 people carry
the PKU gene, and approximately 2025 babies are diagnosed each year (Purnell 2001).
The management of PKU in Australia
The Australasian Society for Inborn Errors of Metabolism (ASIEM) developed a handbook
for families of children with PKU and people with PKU, which provides a practical guide for
management
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