Inherited metabolic diseases can manifest already in childhood, but also can become apparent for the first time in adulthood. A predictive genetic test can help to detect a potential risk early. If variants are present that make the occurrence of certain diseases more likely, preventive measures can help to mitigate or completely avoid the consequences of a disease.
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What Are Metabolic Diseases?
Metabolism is an umbrella term for all biochemical reactions that take place in the body. Components ingested with food are converted into energy and broken down into individual components, which in turn can be used as a basis to construct new cellular building blocks (figure 1). Metabolism can be categorized in different ways. For example, a distinction can be made between the breakdown and build-up of substances (catabolism and anabolism) or according to the respective organs in which the metabolism occurs or following substance groups.
Figure 1: Schematic representation of metabolism. A distinction is made between catabolism (breakdown) and anabolism (build-up) of substances.
In the case of substance groups, a distinction is made between the various components that are ingested with food. These include carbohydrates, proteins, fats, vitamins, trace elements, nucleic acids, and other molecules. The first three categories are the primary energy metabolism sources (figure 1). Carbohydrate metabolism is mainly used for energy gain. Protein metabolism produces energy and individual amino acids, which are needed to build, e.g., cell structures and enzymes. Fat metabolism focuses on energy gain and storage, as well as the formation of hormones and messenger substances. Minerals are, e.g., needed to build bones.
Metabolic diseases can occur in all areas mentioned. They can already occur in childhood, but some are also associated with a first manifestation in adulthood.
One example of a metabolic disease that can be genetically tested in a preventive setting is ornithine transcarbamylase deficiency (OTC deficiency). OTC deficiency is an X-linked inherited disorder that impairs the breakdown and, thus, the excretion of ammonia (figure 2). As a result, ammonia can accumulate in the body and have a toxic effect, which can lead, e.g., to damage to the central nervous system. Symptoms can be headaches, nausea, seizures, and cognitive impairment among others. The focus of treatment is, therefore, on lowering the ammonia level. A combination of an adapted diet and medication is often used for this purpose. In acute cases, dialysis can also help to reduce the ammonia level and prevent complications.
Figure 2: If there is an OTC deficiency, the breakdown and therefore the excretion of ammonia is impaired. Excessive levels of ammonia can lead to symptoms such as headaches, nausea, seizures, and cognitive impairment.
Field Report
Lucy G., 27 years old
Lifestyle: fond of traveling, conscious nutrition
Result: For Lucy G., our predictive diagnostics discovered a variant in the OTC gene, which can cause ornithine transcarbamylase deficiency (OTC deficiency).
Consequence: Lucy G. now regularly attends medical check-ups. If necessary, appropriate treatment can be started immediately and possible damage might be avoided.
„I am very happy to now know my genetic predisposition to OTC deficiency. I am aware that potential damage caused by the disease can be mitigated or even avoided altogether if I act in time.”
How Does Genetic Risk Assessment Work?
Various factors contribute to the development of metabolic diseases. We help to determine the genetic risk. This allows known genetic variants to be reliably detected.
In the Adult-Onset Inborn Errors of Metabolism module, twenty-seven genes are analyzed that are associated with a hereditary, increased risk of metabolic disorders in adult age. Depending on the disease, early detection measures can be planned accordingly, and, if necessary, a lifestyle adjustment or therapy can be initiated.
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