Initial management
- Rachel established as having classical PKU, due to phenylalanine hydroxylase deficiency.
- Considerable information about the biochemical and genetic basis of PKU, and the importance of appropriate dietary treatment were provided.
- Parents were instructed in the basic principles of dietary management.
- Angela was keen to continue breastfeeding if possible. She was instructed on how to express breast milk for 48 hours while Rachel was fed exclusively by bottle with the phenylalanine-free human milk substitute, PKU Anamix infant, to bring down the phenylalanine levels quickly.
- Rachel was then started on the breastfeeding regimen, and fed a predetermined amount of PKU Anamix infant by bottle first, before being allowed to breast feed to satiety.
- Rachel was seen at the PKU clinic in Sydney on a weekly basis.
- Blood phenylalanine monitored twice weekly for the first two weeks, by which time her levels had stabilised.
- Levels were then checked weekly for a month, and subsequently fortnightly.
Long-term management plans
- frequency of visits to Sydney will be decreased to monthly by three months of age and then second monthly.
- blood monitoring performed fortnightly.
- provision of low-phenylalanine diet that meets nutritional requirements to ensure appropriate growth and development.
- introduction of solids at 4-6 months.
- from the age of one Rachel will visit the clinic every three months.