The human metabolism can be divided into several areas:
- Fat metabolism,
- amino acid and protein metabolism,
- carbohydrate metabolism and
- mineral metabolism.
The most well-known metabolic disorder is probably diabetes mellitus, in which the hormone insulin no longer fulfills its intended function and therefore no more sugar is absorbed from the blood into the cells. This usually manifests itself in fatigue, physical weakness and increased thirst in order to excrete the sugar via the urine.
Other examples of metabolic disorders are
As a rule, the cause of metabolic diseases is a genetic defect; the disorder is then congenital. However, this does not mean that it is present from birth. Congenital metabolic disorders often only develop over time or when certain environmental aspects are added as triggers.
Acquired metabolic diseases, such as type 2 diabetes mellitus, occur at any age. Their development is also promoted by risk factors such as obesity, a sedentary lifestyle or environmental toxins such as car exhaust fumes or cigarette smoke. Hormone-producing tumors also cause metabolic disorders.
In general, different metabolic diseases are accompanied by different symptoms . However, there are some key symptoms that are often signs of metabolic dysfunction. These include
- Sharp changes in weight without any changes in eating habits
- Fatigue and weakness or nervousness and restlessness
- Reddening of the skin or stabbing pain
- Abdominal cramps, nausea and stomach pain
If metabolic disorders are not treated adequately, they can lead to serious complaints, physical and mental developmental disorders or even death.
At the beginning of every examination, the patient is questioned (medical history) about their symptoms, medication, lifestyle, medical history and family history as well as a physical examination.
If there are corresponding indications and a suspicion of a metabolic disease, the family doctor or the specialist already consulted will carry out appropriate tests. Among the most important diagnostic procedures are blood and urine tests, which are used to determine hormone and enzyme levels as well as metabolic products. Hypothyroidism or hyperthyroidism, for example, can be diagnosed by the pathologically altered hormone levels.
Rarer and less obvious diseases sometimes require several different blood and urine tests until the cause of the symptoms is found.
In some cases, it may be necessary to use imaging procedures following the results of the blood and urine tests. Ultrasound examinations (sonography) are often used, but occasionally also computer tomography (CT) or magnetic resonance imaging(MRI).
As part of newborn screening, tests for certain metabolic disorders are carried out in the clinic in the first few days of life, for example a test for phenylketonuria by taking a heel prick blood sample.
In most cases, metabolic diseases cannot be cured, so those affected often have to take medication for the rest of their lives. However, with these they are usually free of symptoms. There are numerous principles as to how such medicines work in the body, for example:
- The medicine replaces the substance that is missing in the body, such as a hormone.
- The medicine reduces the substance that accumulates, for example medication to lower blood sugar.
- The medicine prevents the substance from being absorbed into the body, for example so-called cholesterol absorption inhibitors.
The symptoms can usually be improved with drug therapy. Nevertheless, it is often necessary for the patient to follow a diet, for example in patients with diabetes mellitus or lipometabolic disorders, as the regulatory mechanisms in the body cannot react adequately and flexibly despite taking medication. If no medication is available for the therapy, it may be possible to relieve the affected metabolic pathway with a specific diet, so that the patient at least has fewer symptoms.
If tumors are the cause of the metabolic or hormonal disorder, surgery may also be necessary. However, lifelong drug therapy is usually required afterwards, as the missing endocrine gland can no longer secrete hormones.
Unfortunately, some metabolic diseases cannot always be treated successfully despite intensive therapy.
Metabolic specialists can often be found in hospitals or specialized practices. If a newborn is suspected of having a congenital metabolic disorder, the pediatric ward is responsible for this, as it is best versed in the needs and particularities of small children. The pediatrician is also an important point of contact here.
For patients of an advanced age, endocrinologists and gastroenterologists are often the right people to contact if a metabolic disease is suspected. Diabetologists are doctors who specialize in the most common metabolic disease, diabetes mellitus.
Metabolic experts therefore often have a specialist qualification in internal medicine and endocrinology and diabetology, but they can also have another specialist qualification, such as a specialist in internal medicine or a specialist in general medicine or pediatric medicine. Specialist in pediatrics and adolescent medicine and, if necessary, additional further training in the field of metabolic diseases (e.g. certification as a diabetologist by the German Diabetes Society, or further training as a neonatologist).
Specialist training lasts five to six years, depending on the specialization, during which a fixed number of diagnostic procedures and therapies must be carried out. This gives the metabolic disease expert in-depth knowledge in all areas of the diagnosis and treatment of metabolic diseases.
