Study of a National Cohort of Adult Patients With Phenylketonuria

Study of a National Cohort of Adult Patients With Phenylketonuria

Phenylketonuria (PKU) is a metabolic disease of genetic origin. This is a rare disease (incidence 1 / 16000 births) which is the subject of a systematic neonatal screening in France, because it is treatable by a diet low in phenylalanine. This plan is required upon confirmation of diagnosis and continued until the age of 8 years. The current trend is to continue the scheme at least until adolescence. Unlike other countries, in France there are no recommendations for a plan "for life". Knowledge about the natural history of PKU in adulthood, the effects of pediatric age, the frequency of complicated shapes, and prognostic factors are poorly documented. On the other hand, there is no consensus on the therapeutic management of this disease in adulthood and monitoring that could be directed towards the detection of neurological disorders and nutrition. Social integration and quality of life of adults PKU patients living in France have not been studied.

The aim off this study is to follow a French cohort of young adult patients with PKU to:

• Describe the evolution of the disease in adulthood and neurological complications associated neuropsychological detect, investigate the prognostic factors for complications
• Describe the metabolic balance of patients
• Collect data on nutritional status,
• Detect osteoporosis
• Studying social integration and quality of life of adult patients with PKU
• Collect biological samples for further study (markers of bone turnover)

Design:

Cohort :

Duration of the inclusion period: 2 years Duration of subject participation: 5 years Total duration of the study: 7 years

JUDGING CRITERIA:

• Complications associated with PKU in adult
• Evolution of neuropsychometric scores
• Bone mineral density by densitometry
• Measuring the quality of life of patients

Inclusion Criteria:

• Patient age ≥ 18 years
• Phenylketonuria (PKU) or moderate persistent Hyperphenylalaninemia (HMP) diagnosed by neonatal screening
• Reading and signing an informed consent
• Membership of a social security system

Exclusion Criteria:

• History of severe neurological definite diagnosis could interfere with the detection of neurological disorders associated with PKU