No evidence for systemic low-grade inflammation in adult patients with early-treated phenylketonuria: The INGRAPH...

Area of Science:

• Biochemistry
• Immunology
• Cardiovascular Health

Background:

• Cardiovascular risk is a growing concern in adult phenylketonuria (PKU) patients.
• Low-grade systemic inflammation is a known contributor to increased cardiovascular risk.
• The INGRAPH study investigated inflammation in adult PKU patients to understand this emerging risk.

Purpose of the Study:

• To compare low-grade systemic inflammation markers in adult PKU patients versus healthy controls.
• To assess the impact of phenylalanine (Phe)-controlled diet on inflammation in PKU.
• To determine if PKU patients exhibit elevated inflammatory markers associated with cardiovascular risk.

Main Methods:

• Inclusion of 20 early-treated adult PKU patients (15 classical PKU) and 20 matched healthy controls.
• Measurement of plasma C-reactive protein (CRP) and key cytokines (IFNγ, IL-1α, IL-1β, IL-2, IL-6, IL-10, TNF-α).
• Comparison of inflammatory markers between PKU patients and controls, and between PKU patients on and off diet.

Main Results:

• No significant difference in plasma CRP levels between adult PKU patients and healthy controls.
• No significant differences in plasma cytokine concentrations between the two groups.
• Dietary status ('on diet' vs. 'off diet') did not alter CRP or cytokine profiles in PKU patients.

Conclusions:

• Adult PKU patients do not exhibit heightened systemic low-grade inflammation compared to healthy individuals.
• The controlled Phe diet does not appear to modulate systemic inflammation markers in this PKU cohort.
• Further research with larger cohorts and detailed inflammation characterization is necessary to fully understand cardiovascular risk in adult PKU.