The tricky thing: hereditary metabolic diseases show many faces
Compared to other hereditary diseases, genetic metabolic disorders are quite common in their sum: more than 700 metabolic diseases are known to be due to genetic causes. These include, for example, familial hypercholesterolemia. The prevalence of lipid metabolic disorders is estimated at 1 in 250. In many cases the disease is undiagnosed - this can have fatal health consequences. MODY (Maturity Onset Diabetes of the Young) is also often identified late. Most patients are classified as type 1 or type 2 diabetes for years. Thus, patients do not receive adequate treatment and therapy.
In addition, there are numerous metabolic diseases that are less well known. They usually hide behind unspecific symptoms and a gradual course of the disease, can occur at any time and with varying intensity. This makes their diagnosis a challenge. As a result, hereditary metabolic diseases are often diagnosed too late or incorrectly. However, an early and precise diagnosis is crucial in order to treat the diseases adequately and, at best, to slow them down. Therapies are available for some metabolic defects. For example, the prognosis of the glycogen storage disease Pompe disease can be improved with enzyme replacement therapy. Other diseases can be treated with special diets. And: With knowledge of the underlying genetic change and the hereditary pattern, risk carriers within a family can be identified at an early stage. Patients and their relatives receive valuable information on the risk of recurrence if they wish to have children.