3 documents found, page 1 of 1
Mitochondrial fatty acid β-oxidation disorders: from disease to lipidomic studi...
Guerra, Inês M. S.; Ferreira, Helena B.; Melo, Tânia; Rocha, Hugo; Moreira, Sónia; Diogo, Luísa; Domingues, Maria Rosário; Moreira, Ana S. P.Fatty acid oxidation disorders (FAODs) are inborn errors of metabolism (IEMs) caused by defects in the fatty acid (FA) mitochondrial β-oxidation. The most common FAODs are characterized by the accumulation of medium-chain FAs and long-chain (3-hydroxy) FAs (and their carnitine derivatives), respectively. These deregulations are associated with lipotoxicity which affects several organs and potentially leads to l...
Plasma phospholipidomic profile differs between children with phenylketonuria a...
Guerra, Inês M. S.; Diogo, Luísa; Pinho, Marisa; Melo, Tânia; Domingues, Pedro; Domingues, M. Rosário; Moreira, Ana S. P.Phenylketonuria (PKU) is a disease of the catabolism of phenylalanine (Phe), caused by an impaired function of the enzyme phenylalanine hydroxylase. Therapeutics is based on the restriction of Phe intake, which mostly requires a modification of the diet. Dietary restrictions can lead to imbalances in specific nutrients, including lipids. In the present study, the plasma phospholipidome of PKU and healthy childr...
Lipids and phenylketonuria: current evidences pointed the need for lipidomics s...
Guerra, Inês M. S.; Ferreira, Helena B.; Neves, Bruna; Melo, Tânia; Diogo, Luísa M.; Domingues, M. Rosário; Moreira, Ana S. P.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 s...