The beneficial effect of adherence to the therapeutic diet on the
main protein-energy wasting and several other biomarkers in children with phenylketonuria
Affiliations: Institute of Child Health, Research Centre, Athens,
Greece | Department of Clinical Biochemistry, "Aghia Sophia"
Children's Hospital, Athens, Greece
Note: [] Corresponding author: Ioannis Papassotiriou, Department of
Clinical Biochemistry, "Aghia Sophia" Children's Hospital, 115 27 Athens,
Greece. Tel.: +30 213 2013931; Fax: +30 213 2013171; E-mail:
biochem@paidon-agiasofia.gr, ipapassotiriou@gmail.com
Abstract: Replacement of natural protein intake, low total antioxidant status
(TAS) and DNA oxidation and high phenylalanine (Phe) blood levels are
implicated with poorly controlled patients with PKU. In this study we aimed to
investigate the effect of diet on the main Protein Energy Wasting (PEW) along
with other metabolic parameters in patients with phenylketonuria (PKU).
Twenty-four poorly controlled patients (group A) and thirty patients who
strictly adhered to their diet (group B) as well as controls (n=50) underwent laboratory tests: complete blood count,
concentrations of ferritin, lipid, lipoprotein, TAS, as well as Phe levels with
appropriate methodology. Phe levels differed significantly among the groups.
Lipids lipoproteins, except HDL, were higher in group A than those measured in
group B and controls. TG was not higher in any group. TAS (386
± 30 vs 204 ± 23
μmol/L, p < 0.001), ferritin (65
± 12 vs 52 ± 10
μg/L, p < 0.01) were significantly
higher in group B. In contrast, White Blood Cell count (WBC) (6.1
± 1.0 vs 8.3 ± 1.2
× 10^3/μL,
p < 0.01), the absolute number (1.9 ±
0.6 vs 2.9 ± 0.7 ×
10^3/μL, p < 0.001)
and percentage of lymphocytes (18.5 ± 3.0 vs 39.3
± 4.0%, p < 0.01) were lower in group A than those
in group B, whereas total protein and albumin levels were similar among the
groups. Most main PEW biomarkers, the low WBC, the low absolute and percentage
of lymphocytes in poorly controlled patients may be directly and/or indirectly
affected by their high Phe levels and/or low TAS levels in children with PKU on "loose diet".
