Development of a tool to assess nutritional intake in PKU patients for nutritionists from the IMD Reference and Treatment Centres in Portugal

Investigador: Manuela Ferreira de Almeida
Instituição: Unidade Local de Saúde de Santo António, EPE - Centro de Genética Médica Doutor Jacinto de Magalhães; Porto, Portugal

Abstract
Phenylketonuria (PKU) is a rare inherited metabolic disorder requiring lifelong dietary management
to prevent severe neurological and cognitive impairments. Vital to PKU management is the precise
monitoring of nutritional intake, through a dietary tool with permitted natural foods, protein substitutes,
energy supplements and special low-protein foods available in Portugal, comprising macronutrients,
micronutrients, vitamins, minerals, tyrosine (Tyr) and phenylalanine (Phe), a critical component of the
protein-restricted diet required. .
Despite advances in PKU treatment, there remains a pressing need for a consensual and
standardized informatic tool to assess nutritional intake accurately, ensuring consistency in prescribing
dietary intake and optimizing patient care and outcomes. In Portugal, this necessity is particularly urgent due
to the existence of nine specialized Reference and Treatment Centres for the treatment of Inherited
Metabolic Disorders (IMD) that currently work with different tools and nutritional monitoring approaches
for patients with PKU.
Currently, this disparity not only complicates the nutritional evaluation of PKU patient outcomes
across IMD Centres but also hinders collaborative research and the implementation of national nutritional
guidelines. A standardized nutritional assessment tool, specifically tailored for PKU, would address this gap,
enabling the accurate evaluation of dietary intake while supporting harmonized patient nutritional and
dietary care across our country. Such tool would also facilitate an equally treatment and a better
communication between healthcare nutritional professionals of all IMD Portuguese Centres.
With this project we aim to create a standardized informatic nutritional assessment tool, designed
to be routinely used by nutritionists specialized in the treatment of PKU in all Portuguese IMD Centres. To
accomplish it, we propose the creation of a new editable spreadsheet, including data from the database of
the most recent Portuguese Food Composition Table, complemented with the amino acid profile from the
British and American Food Composition Tables, namely, Phe and Tyr, and all available commercial protein
substitutes, energy supplements and special low-protein foods.
This tool will also consider the Portuguese Consensus for the nutritional and dietary treatment of
PKU and the European PKU Guidelines (EPG), both for patients treated exclusively with diet or diet and
pharmacological interventions, allowing an accurate assessment of nutritional intake and standardizing the
treatment of PKU by nutritionists at all IMD Centres in Portugal.
The new informatic tool would not only standardize the evaluation of PKU nutritional intake but
also align with international best practices, promoting consistency and excellence in metabolic care.
With the support of this grant, we expect to address a critical gap in PKU nutritional management,
ensuring that every PKU patient in Portugal receive the highest standard and nutritional uniform care,
regardless of their IMD Reference or Treatment Centre.
By implementing this initiative, we will improve and make more equitable the nutritional and
dietary management of PKU patients in Portugal, fostering multicentre cooperation and collaborative
research, with the possibility of update national nutritional guidelines, which may set a precedent for other
countries facing similar challenges.