What is metabolism?
- The sum of all processes to convert food into energy and building blocks to keep cells and organs functional. Includes both breakdown and production of molecular building blocks (also known as metabolites).
What is a metabolic disorder/disease?
- A disruption of the normal metabolic process leading to an imbalance in energy and/or breakdown/production of metabolites.
- Is normally caused by a change in an enzyme’s ability to convert molecules as normal.
What is an inborn metabolic disease?
- Rare genetic disorder where a mutation in a gene leads to production of an enzyme with an altered activity or a defect in enzyme production. A mutated enzyme will normally have reduced or complete loss of activity.
How can one help people with inborn metabolic diseases?
- In some cases use of supplement to replenish lacking metabolites.
- Some diseases can be treated by providing enzyme therapy – normally a very expensive solution.
- Other diseases can be controlled by (strict) regulation of diet.
- Using medicine – specially designed and approved chemical compounds – that will engage with enzymes and counteract the metabolic imbalance.
Why is it important to discover new medicines for rare inborn metabolic disorders?
- It is important that inborn metabolic diseases are discovered at an early stage and intervention started immediately, as normal development in children can be severely affected by the metabolic imbalance.