Plasma Phospholipidomic Profile Differs between Children with Phenylketonuria and Healthy Children

Phenylketonuria (PKU) is a disease of the catabolism phenylalanine (Phe), caused by an impaired function enzyme hydroxylase. Therapeutics based on restriction Phe intake, which mostly requires modification diet. Dietary restrictions can lead to imbalances in specific nutrients, including lipids. In present study, plasma phospholipidome PKU and healthy children (CT) was analyzed hydrophilic interaction liquid chromatography-tandem mass spectrometry gas chromatography-mass spectrometry. Using this approach, 187 lipid species belonging nine different phospholipid classes three ceramides were identified. Principal component analysis data set showed distinction between CT groups. Univariate revealed that 146 phospholipids significantly both Lipid showing significant variation included phosphatidylcholines, containing polyunsaturated fatty acids (PUFA), more abundant PKU. The high level PUFA-containing with may be related diet supplemented PUFA. This study first report comparing polar lipidome children, highlighting altered compared CT. However, further studies larger cohorts are needed clarify whether these changes phenylketonuric children.