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Plasma Phospholipidomic Profile Differs between Children with Phenylketonuria and Healthy Children

Inês M S Guerra1, Luísa Diogo2, Marisa Pinho3

  • 1Mass Spectrometry Center, LAQV-REQUIMTE, Department of Chemistry, University of Aveiro, Campus Universitário de Santiago, 3810-193 Aveiro, Portugal.

Journal of Proteome Research
|April 5, 2021
PubMed

Insights

Phenylketonuria (PKU) alters plasma phospholipid profiles in children. This study found significant differences in lipid species, particularly polyunsaturated fatty acids (PUFA), in children with PKU compared to healthy controls.

Area of Science:

  • Biochemistry
  • Metabolic Disorders
  • Nutritional Science

Background:

  • Phenylketonuria (PKU) is a metabolic disorder affecting phenylalanine (Phe) catabolism due to impaired phenylalanine hydroxylase enzyme function.
  • Current PKU management involves dietary Phe restriction, which can lead to nutrient imbalances, including alterations in lipid metabolism.
  • Understanding these lipidomic changes is crucial for optimizing PKU patient care and nutritional strategies.

Purpose of the Study:

  • To comprehensively analyze and compare the plasma phospholipidome in children with PKU and healthy controls.
  • To identify specific lipid species and classes that are significantly altered in PKU patients.
  • To investigate potential correlations between dietary interventions and observed lipidomic profiles.

Main Methods:

  • Plasma samples from PKU patients and healthy children (CT) were analyzed using hydrophilic interaction liquid chromatography-tandem mass spectrometry (HILIC-MS/MS) and gas chromatography-mass spectrometry (GC-MS).
  • A total of 187 lipid species, including nine phospholipid classes and three ceramides, were identified and quantified.
  • Statistical analyses, including Principal Component Analysis (PCA) and univariate analysis, were employed to differentiate between the groups and identify significant variations.

Main Results:

  • PCA effectively distinguished the plasma lipid profiles of PKU children from healthy controls.
  • Univariate analysis revealed significant differences in 146 phospholipid species between the two groups.
  • Notably, phosphatidylcholines containing polyunsaturated fatty acids (PUFA) were found to be more abundant in children with PKU, possibly due to PUFA supplementation in their diet.

Conclusions:

  • The plasma phospholipidome is significantly altered in children with PKU compared to healthy children.
  • The observed increase in PUFA-containing lipids in PKU patients warrants further investigation.
  • Larger cohort studies are necessary to confirm the specificity of these phospholipidome alterations to PKU and their clinical implications.

Keywords:
inborn errors of metabolismlipidomicsmass spectrometryphenylketonuriaphospholipidsplasma

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