Patients with an inherited metabolic disease deserve an early diagnosis as well as effective and optimal treatment. Detrimental effects of the disease can only be prevented or mitigated through individualized treatment and tailored care.
Inherited metabolic diseases are a group of more than a 1000 different conditions caused by a genetic defect in metabolism.
These diseases are characterized by the inability to convert proteins, fats and carbohydrates into energy which causes shortages of building blocks and a buildup of harmful or toxic products. This results in irreversible organ damage, affecting the brain and nervous system, but also the eyes, kidneys, heart and liver.
Patients suffer from lifelong physical and mental disabilities. The symptoms may differ per inherited metabolic disease and are often very severe, or even fatal. The symptoms usually start at a young age and are progressive.
The great diversity, complexity and rarity of inherited metabolic diseases require more focused and integrated attention, increased awareness and financial support for scientific research.
This is needed to improve future perspectives and outcomes for patients and their families in the coming years. To address these requirements in an integrated way, we founded ‘United for Metabolic Diseases’ (UMD).
UMD is a unique collaboration between medical doctors, researchers and laboratory specialists of the metabolic centers of expertise in the Netherlands and the Dutch umbrella patient organization ‘Volwassen, Kinderen en Stofwisselingsziekten’ (VKS).
UMD’s mission is to apply and translate innovative research and technology into improved diagnosis, treatment and care for all patients and families suffering from an inherited metabolic disease.
The metabolic catalyst wheel: UMD is all about the patient.
Activities within the UMD are centered around the patient. The goal is to catalyze translational research into a healthy future for all individuals with an inherited metabolic disease. The patient can enter the metabolic catalyst wheel at any phase of the program. The aim is to let the patient follow the wheel towards tailored treatment and care.
United for Metabolic Diseases (UMD) is a unique, innovative and multidisciplinary collaboration with the common goal to perform innovative research in order to improve diagnosis, prevention, treatment and care for patients and families with an inherited metabolic disease.