In response to a request from the Metabolic Dietary Disorders of Australia (MDDA) to develop standardised guidelines for the management of PKU, a working party was formed by the Australasian Society of Inborn Errors of Metabolism (ASIEM) with membership from each centre that manages PKU within Australasia. The working party included consultant metabolic physicians, metabolic dietitians, a metabolic fellow in training, a metabolic nurse practitioner and a laboratory scientist. From January to March 2016, a non-systematic review of the literature was undertaken on the management and monitoring requirements of PKU. A summary of the literature including the recommendations was then circulated for comment from other Australasian health professionals working with individuals with PKU.
Feedback was reviewed, collated and included in this guideline document for ASIEM endorsement and implementation across Australasian clinics. The detailed and specific management of maternal PKU was not addressed in this guideline as it was the basis of a separate Guideline (ASIEM 2015).
The need for consistent Australasian recommendations for the management of PKU is acknowledged. Despite the lack of high level evidence to inform clinical practice, best practice recommendations have been formulated based on the available published literature including international guidelines from Europe, Scotland (including the United Kingdom) and North America. Further and ongoing research is required to determine best management practices to promote optimal outcomes for individuals with PKU.