Metabolic diseases
Treatment and care
It is of the utmost importance that the patient is informed correctly and completely from the beginning by the treating physician. Because there are so many types of metabolic diseases, the treatments also differ greatly.
For approximately one third of the metabolic diseases that occur, a treatment is known. Special medicines are available for a number of diseases. The treatment is always aimed at preventing or slowing down the main symptoms of the disease, protecting damaged organs or tissues and maintaining the quality of life as well as possible. Nothing can be done (yet) about the cause of the disease, the abnormality in the DNA. For a number of other diseases, damage to the brain can be prevented with a strict diet or lifestyle rules. The most important thing is that you serve healthy, balanced and varied meals. A dietician will provide you with the right guidance in putting together meals. Foods provide us with nutrients. There are 2 groups:
- Macronutrients: proteins, fats, carbohydrates, fluids and dietary fiber
- Micronutrients: aids such as vitamins and minerals.
Important organs, such as kidneys and liver, which are increasingly less effective due to certain diseases, can be transplanted. Sometimes a bone marrow transplant is the only way to prevent damage to the brain. This treatment is only promising if there are hardly any symptoms of the disease.
In a growing number of diseases, the missing enzyme can be given via an infusion, the enzyme replacement therapy. In recent years, more and more special medicines, orphan drugs, have become available for metabolic diseases, because the development of medicines for rare diseases has become easier.
An orphan drug is an authorised medicine used for the diagnosis, prevention or treatment of a rare, fatal or very serious disease.
To benefit from the status of “orphan medicinal product”, a medicinal product must meet the criteria set out in Regulation EC No 141/2000 of the European Parliament and of the Council of 16 December 1999 and, in particular, must be intended for the diagnosis, prevention or treatment of conditions affecting no more than 5 persons in 10,000 in the European Community.
