Life With Phenylketonuria. Adult Neurological Outcome of PCU Screened Patients From 1971 to 2002.

Becoming Adulthood of Phenylketonuric Patients Screened in the Neonatal Period: From 1971 to the Present Day.

You were detected during the neonatal period for phenylketonuria and you benefited from the diagnosis of an adapted dietetic care, and this for a variable duration according to the recommendations followed at that time.

The recommendations for the management of phenylketonuria have evolved considerably over time, lengthening the duration, rigor of the diet and target rates. However, few studies have been able to determinate the influence of metabolic balance and pediatric management on fate in adulthood. As you know, the current recommendations are more stringent and prolonged, without taking into account the pediatric data of today's adult patients.

The objective of this study, which is aimed at all adult patients screened and followed by Lille University Hospital, according to the same care methods, allowing a homogeneous monitoring of patients, is to assess the influence of pediatric care (duration of the diet, metabolic balance, compliance) on the future in adulthood. This retrospective and current analysis work could help refine the current recommendations.

Inclusion Criteria:

• Patients with classic or atypical phenylketonuria detected in the neonatal period since 1971 in the department of Nord (59) and Pas de Calais (62).
• Patients treated
• Able to receive information
• Patient beneficiary or affiliated to a social security

Exclusion Criteria:

• Patients not screened (born outside French territory) or before 1971.
• Untreated screened patients
• Patients screened for persistent benign hyperphenylalaninaemia not treated with a diet (Phenylalanine level <10 mg / dl or 600 µmol / l without diet to be confirmed)
• Associated confirmed neurological pathology other than a complication of phenylketonuria.
• Refusal to participate in the assessment of Intellectual Quotient in adulthood
• Patient screened, lost to follow-up, found, having moved to another region and not wishing to return to the CHU for follow-up.
• Inability to receive information and or express opposition
• Opposition to participation in the study