Area of expertise and Healthcare Provider’s contribution to care for patients within the MetabERN Network
University of Groningen, University Medical Center of Groningen
Groningen, NETHERLANDS
Within the METABERN, our expertise and contributions is related to the following main categories of inherited metabolic diseases:
– Amino acid and organic acid related disorders (Francjan van Spronsen)
– Carbohydrate, fatty acid oxidation and ketone bodies disorders (Terry Derks)
– Disorders of neuromodulators and small molecules (Tom de Koning)
Our center hosts all facilities for diagnosis, (dietary) management and clinical and biochemical follow-up of patients with these disorders. We provide 24/7 emergency care for patients with metabolic disorders, that can cause fast metabolic decompensation (like glycogen storage diseases and disorders of mitochondrial fatty acid oxidation).
In addition to the personalised dietary management and monitoring facilities for our patients, we can contribute based on our experiences in existing networks like ESPKU, INFORM and the GSD network. In collaboration with international GSD patient associations, the HP hosted the International GSD Conference in June 2017.
SPECIFIC TREATMENTS AND INTERVENTIONS PROVIDED BY THE HCPs
A summary of specific treatments and interventions includes:
– Prevention and follow-up after positive population neonatal screening tests
– Participation and coordination of guidelines and pathways
– Coordination of and cooperation within international cohort studies
– Clinical trials
– Sterring advisory boards of patient organisations and doing patient empowerment
– Tailored dietary management for patients with difficult to manage inherited metabolic diseases
– A uniform acute care protocol for (prevention of) metabolic decompensation and the opportunity for patients/parents to directly contact the metabolic pediatrician on call 24/7
– Ambulatory services home side monitoring PKU and tyrosinemia type I
– eHealth project called “from bedsite to homeside monitoring for GSD-patients”
– Expertise for patients with movement disorders
– Continuous glucose monitoring
– Organ transplantation
– Imaging techniques (ultrasound, X-ray, PET-scan, MRI, etc)
– Intensive care treatment
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