Our activity

European patient registry

The web-based password-protected registry has been established to include standardized follow-up investigations of children and adults with one of the four main organic acidurias or a urea cycle disorder. The registry contains data for over 1100 patients (over 700 organic acidurias and over 400 urea cycle disorders). Patients are followed using a standardized assessment schedule including basic data, family history, age at diagnosis, first symptoms, frequency and duration of hospitalization, medical and developmental history, physical and neurological examination, MRI studies, neuropsychological tests, and quality of life assessment. The registry is continually growing by addition of new patients and clinical follow ups of existing patients.

Link to patient registry

E-IMD - www.e-imd.net