Study of Low-grade Systemic Inflammation in Adult Patients With Phenylketonuria

Phenylketonuria (PKU) is a metabolic hereditary disease due to lack of activity of phenylalanine hydroxylase. This lack of activity whom origin is genetic, results in chronic hyperphenylalaninemia, toxic to central nervous system and cardiovascular system. Without treatment, PKU is responsible for mental retardation in children.

PKU is subject to systematic screening at birth and if diagnosis is confirmed a specific diet controlled in phenylalanine is prescribed for infant. This diet allows a neurodevelopment as closed as healthy infant. Despite this diet, neurological and systemic complications are more often reported at adult age. It is therefore recommended to follow patient regularly in order to search for those complications.

In a PKU murine model, it has been shown (cf references) that a low grade systematic inflammation exists and was reversible after dietetic treatment using glycomacropeptide (through a probiotic effect of this protein naturally phenylalanine free). Existence of this low grade systematic inflammation, evaluated by plasmatic cytokine screening (TNF alpha IL2, IL6, IL10, IFNgamma, IL1Alpha, IL1Beta and protein C reactive) has not been proven in humans to date.

Primary outcome of this study is to characterize this low grade systemic inflammation profile in patient with PKU.

Inclusion criteria

(patient with PKU)

• Age >/= 18 years old
• Phenylketonuria diagnosis
• Fasting condition
• Registered with a social security system
• Patient consent

Inclusion criteria

(healthy volunteer)

• Age >/= 18 years old
• No metabolic condition
• Fasting condition
• Paired to patient with phenylketonuria already included according to age, sex and BMI class
• Registered with a social security system
• Volunteer consent

Exclusion criteria

, common to healthy volunteer and patient with phenylketonuria

• Pregnant and lactating women
• Subject to legal protection measures.
• Chronic or acute inflammatory disease
• Fever on inclusion
• Undergoing anti inflammatory treatment
• Surgery in the previous months
• Diabetes
• Included in other therapeutic trial