Metabolic 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. Most metabolic diseases are hereditary.
Hundreds of inherited metabolic diseases are known. These are rare diseases. Nevertheless, ten thousand patients and families in the Netherlands suffer from various physical and mental limitations due to an inherited metabolic disease. In addition, it is one of the leading causes of death in children under the age of fifteen. Inherited metabolic diseases are therefore a major but often socially unknown problem.
Inherited metabolic disease is a collective name for a group of hundreds of rare diseases that are caused by a genetic defect in metabolism.
Newborn screening offers the possibility of diagnosing inherited metabolic diseases early on in neonates. The number of inherited metabolic diseases in the Dutch newborn screening will soon be expanded from 15 to 27. The ultimate goal of the UMD is to detect all inherited metabolic diseases as early as possible in order to guarantee a healthy future for all patients.
Inherited metabolic diseases are one of the main causes of death of children in the Netherlands