posted on 2021-04-05, 20:29authored byInês
M. S. Guerra, Luísa Diogo, Marisa Pinho, Tânia Melo, Pedro Domingues, M. Rosário Domingues, Ana S. P. Moreira
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 children
(CT) was analyzed by hydrophilic interaction liquid chromatography–tandem
mass spectrometry and gas chromatography–mass spectrometry.
Using this approach, 187 lipid species belonging to nine different
phospholipid classes and three ceramides were identified. Principal
component analysis of the lipid species data set showed a distinction
between PKU and CT groups. Univariate analysis revealed that 146 species
of phospholipids were significantly different between both groups.
Lipid species showing significant variation included phosphatidylcholines,
containing polyunsaturated fatty acids (PUFA), which were more abundant
in PKU. The high level of PUFA-containing lipid species in children
with PKU may be related to a diet supplemented with PUFA. This study
was the first report comparing the plasma polar lipidome of PKU and
healthy children, highlighting that the phospholipidome of PKU children
is significantly altered compared to CT. However, further studies
with larger cohorts are needed to clarify whether these changes are
specific to phenylketonuric children.