Lipids and phenylketonuria: Current evidences pointed the need for lipidomics studies


Phenylketonuria (PKU) is the most prevalent inborn error of amino acid metabolism. The disease is due to the deficiency of phenylalanine (Phe) hydroxylase activity, which causes the accumulation of Phe. Early diagnosis through neonatal screening is essential for early treatment implementation, avoiding cognitive impairment and other irreversible sequelae. Treatment is based on Phe restriction in the diet that should be maintained throughout life. High dietary restrictions can lead to imbalances in specific nutrients, notably lipids. Previous studies in PKU patients revealed changes in levels of plasma/serum lipoprotein lipids, as well as in fatty acid profile of plasma and red blood cells. Most studies showed a decrease in important polyunsaturated fatty acids, namely DHA (22:6n-3), AA (20:4n-6) and EPA (20:5n-6). Increased oxidative stress and subsequent lipid peroxidation have also been observed in PKU. Despite the evidences that the lipid profile is changed in PKU patients, more studies are needed to understand in detail how lipidome is affected. As highlighted in this review, mass spectrometry-based lipidomics is a promising approach to evaluate the effect of the diet restrictions on lipid metabolism in PKU patients, monitor their outcome, namely concerning the risk for other chronic diseases, and find possible prognosis biomarkers.




Biochemistry & Molecular Biology; Biophysics


Guerra, IMS; Ferreira, HB; Neves, B; Melo, T; Diogo, LM; Domingues, MR; Moreira, ASP

nossos autores


Thanks are due to the FCT/MCT (Portugal) for the financial support to CICECO - Aveiro Institute of Materials (UIDB/50011/2020+UIDP/50011/2020), CESAM (UIDB/50017/2020+UIDP/50017/2020), LAQV-REQUIMTE (UIDB/50006/2020), QOPNA (UID/QUI/00062/2019), and RNEM (LISBOA-01-0145-FEDER-402-022125) through national funds and, where applicable, co-financed by the FEDER, within the PT2020 Partnership Agreement and Compete 2020. Ana Moreira thanks the research contract under the project Coccolitho4BioMat - Coccolithophore microalgae biorefinery: an approach for sustainable biomaterials (POCI-01-0145-FEDER-031032), funded by Centro 2020, through FEDER and PT2020. Tania Melo also thanks the research contract under the project Omics4Algae -Lipidomic tools for chemical phenotyping, traceability and valorisation of seaweeds from aquaculture as a sustainable source of high added-value compounds (POCI01-0145-FEDER-030962), funded by Centro 2020, through FEDER and PT2020.

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