What are inherited metabolic diseases?
An inherited metabolic disease is caused by a flaw in the DNA that disrupts the body's energy balance and causes the body to poison itself.
We all need energy. Metabolism is the process that keeps your energy balance in order: building blocks from the nutrients we eat, such as carbohydrates, fats, and proteins, are converted into energy.
Children with metabolic disease are born seemingly healthy, but because of a mistake in their DNA, their energy systems do not function properly. The result is life-threatening energy deficiencies and severe damage to the body from unprocessed waste. All systems are down. The consequences vary from child to child: some become deaf, blind, mentally or physically disabled, or forget who their parents are. Many children die at a very young age: 1 in 4 do not live past the age of 18. Without treatment, metabolic disease kills everyone.
Every day in the Netherlands a child is born with a metabolic disease. Often several children in one family are affected. At present, only a small proportion of these children can be treated.
But we are on the verge of a breakthrough in the treatment of metabolic diseases through research into gene therapy and drugs. If we commit to research now, we will be able to treat half of these patients in 10 years. And hopefully this is just the beginning, so that in the future no child will die of a metabolic disease.
Every day a child is born with a metabolic disease. 1 in 4 children with a metabolic disease do not live past the age of 18.
The Metakids Foundation facilitated the establishment of the UMD with revenues from the ‘VriendenLoterij Prijzenmarathon’ in 2018 and will do so for at least the next 5 years. In addition, the Metakids Foundation and the UMD will collectively and separately raise additional funding to maintain and further develop UMD into a sustainable collaboration.
