Project Neurologic and psychiatric assessment of middle-aged (>30 y) early-treated Phenylketonuria patients (ETPKU): a…

Basic data

Title:
Neurologic and psychiatric assessment of middle-aged (>30 y) early-treated Phenylketonuria patients (ETPKU): a pilot-study to assess the risk of Early Neurodegeneration (EN-ETPKU Study)
Duration:
01/08/2014 to 31/07/2015
Abstract / short description:
Phenylketonuria (PKU) is a metabolic genetic disorder characterized by accumulation of Phenylalanine in blood and brain leading to significant cognitive, psychiatric, and intellectual impairment. Early dietary treatment resulted in the prevention of severe brain damage but in adulthood PKU patients may have an increased risk of neurodegenerative disorders, given the co-presence of oxidative damage, dysmetabolic abnormalities and possibly Phenylalanine brain accumulation. This study aims at investigating the presence of possible neurodegenerative disorders in adult PKU patients using neuropsychological tests, structural (Magnetic resonance imaging, MRI, transcranial sonography), biochemical (CSF analysis, urine and blood analyses) and functional (motor and sensory evoked potentials) assessments.
Keywords:
Pilot study
Phenylketonuria (PKU)
Early Neurodegeneration

Involved staff

Managers

University Department of Neurology
Hospitals and clinical institutes, Faculty of Medicine

Local organizational units

Department of Neurology with Focus on Neurodegenerative Disorders
University Department of Neurology
Hospitals and clinical institutes, Faculty of Medicine

Funders

Reutlingen, Baden-Württemberg, Germany
Help

will be deleted permanently. This cannot be undone.