Patient Journey on PDH Deficiency

Our PM-MD subnetwork has collaboratively written a Patient Journey for Pyruvate dehydrogenase (PDH) deficiency together with the Freya Foundation.

PDH Deficiency is a rare neurodegenerative disorder associated with abnormal mitochondrial metabolism and characterised by a wide range of clinical signs with metabolic and neurological components.

The sections of this Patient Journey describe the recognition of the first symptoms, the diagnostic phase, the treatment phase – including supportive management – the regular monitoring, and the transition to adulthood. An additional section is dedicated to the family and social needs.

The PDH Deficiency Patient Journey is currently available in English, Portuguese, Norwegian, Polish, Spanish, Swedish, Georgian and will soon be available in French, Dutch, Italian, German, and Estonian.