Metabolic disorders

Vital metabolic processes take place in every cell of the human body. If something gets out of balance, one speaks of a metabolic disorder, which can lead to a metabolic disease if it persists for a long time.

What is a Metabolic disorder?

Metabolic processes are the basis of all vital bodily functions. The organism gains energy and regenerates itself via metabolism. Metabolism is also the basis for all growth. To do this, various nutrients and chemical substances are smuggled into the cells and converted into essential compounds for the body.

Other metabolic processes break down superfluous, sometimes toxic metabolic products and prepare them for excretion. Any disruption to the precisely interlocking metabolic processes can cause damage.

Metabolic diseases are often congenital and anchored in genes. Some genetic defects are hereditary, and others arise spontaneously. However, metabolic disorders can also develop due to unfavorable environmental factors. In many cases, genetic predisposition and environmental influences such as lifestyle are combined.

Metabolic disorders from A to Z

What are Metabolic disorders?

In metabolic processes, different chemical reactions take place in sequential steps. A specific enzyme controls each metabolic step. If one or more enzymes are defective and not present in sufficient or too large quantities, this disrupts the entire process.

Disturbed hormone production is often the trigger for metabolic disorders. The hormones act as messengers, which in turn control the enzymes. This is how hormones direct the entire metabolic process. If the body releases too high or too few amounts of certain hormones, the possible consequence is a disturbed metabolism.


Metabolic disorders can have the following effects:

  • Accumulation of metabolic products: In the case of some metabolic disorders, the organism does not break down certain substances or intermediate products quickly enough. They accumulate in the body and cause problems.
  • Deficiency of substances: Other metabolic disorders cause a deficiency of specific metabolites, which disrupts the body’s functions.
  • Altered metabolites: Due to disrupted metabolic processes, altered, harmful, or unusable metabolites or intermediate products can arise.

Types of metabolic disorders

There are different types of metabolic disorders. They are divided into four main groups according to the nutrient classes that are processed:

  • Disorders of lipid metabolism (e.g., increased cholesterol levels)
  • Disorders in carbohydrate metabolism (e.g., diabetes
  • Disorders in protein metabolism (e.g., maple syrup disease – a severe, congenital genetic defect in which the body can not break down certain amino acids)
  • Disturbances in the mineral balance (e.g., phosphate deficiency)
Cholesterol Levels
Elevated cholesterol levels pose a serious threat to the body. Read what cholesterol actually is and what the readings say!

Common Metabolic disorders

Some metabolic diseases occur very frequently in the Central European population – for example, thyroid function disorders or the so-called diabetes mellitus. The most critical metabolic diseases at a glance:


The most common and well-known metabolic disease is diabetes mellitus. There are two main forms of this. Type 1 diabetes is an autoimmune diseaseThe immune system destroys the insulin-producing cells in the pancreas. As the blood level of insulin falls, less and less blood sugar reaches the body cells. The blood sugar level rises, and simultaneously, the body cells “starve.”

Type 2 diabetes has an entirely different disease mechanism: although there is enough insulin in the blood, the body cells are becoming increasingly insensitive to it (insulin resistance). They, therefore, absorb less blood sugar – so the values ​​rise here too. The cause of this form of diabetes is a combination of specific genes and an unfavorable lifestyle – primarily characterized by poor nutrition, lack of exercise, and obesity.

Diabetes is a severe health problem when the body cannot regulate proper blood glucose or blood sugar levels. People with diabetes have too much glucose in their blood, either because the body cannot produce enough insulin or cannot effectively use the insulin it produces. Increased blood glucose can eventually damage the body’s vital organs and tissues and lead to several severe health conditions, including heart disease, stroke, kidney disease, blindness, and foot problems. Read more about symptoms, causes, treatment, and more!

Thyroid dysfunction

The thyroid gland uses various hormones to regulate the body’s pace of work. Your hormones are, therefore, of central importance for numerous metabolic processes. For example, they control heart activity, energy turnover, bowel function, and muscle strength.

Underactive thyroid: When the thyroid gland is underactive (hypothyroidism), your metabolism slows down. The consequences include weight gainhair loss, exhaustion, and depression.

Hypothyroidism is a condition in which your thyroid gland does not produce enough of the hormones that control your metabolism. The thyroid hormone regulates your body’s temperature, heart rate, and blood pressure. Hypothyroidism can come on slowly over time and may feel like a cold or flu—fatigue, weight gain, constipation, dry skin, and hair loss, for example. Read more about symptoms, causes, treatment, and more!

Hyperthyroidism: The so-called thyroid autonomy is the most common cause of hyperthyroidism. Parts of the thyroid produce hormones uncontrollably. Complaints are cardiac arrhythmiahigh blood pressurenervousnessand weight loss.

Hypothyroidism is a condition where the thyroid gland produces too much of the hormone thyroxine, which is, in turn, causing the cells in the body to produce too much energy. This extra energy can manifest itself in many ways, such as weight gain, hair loss, dry skin, irregular menstrual periods, and muscle aches. Hyperthyroidism is the reverse of hypothyroidism, where the thyroid gland produces too little of the hormone thyroxine. Hyperthyroidism symptoms are very similar, but in more severe cases, symptoms can include high blood pressure, a rapid heartbeat, breathing problems, extreme fatigue, weight loss, depression, and difficulty concentrating. People have varying responses to hyperthyroidism, some being mildly affected while others can experience severe symptoms. Read more about the symptoms, causes and treatment here!

Gout (gouty arthritis)

In gout, the uric acid metabolism is disrupted: the uric acid level is so high that it crystallizes out. The crystals settle in organs and joints and provoke inflammatory reactions there.

The cause of gout is usually a congenital disorder of the purine metabolism due to various genetic defects. Another possible cause is that the kidneys are not removing enough uric acid. There are multiple causes, such as kidney disease or excessive alcohol consumption.

Gout is a disease that causes inflammation in your joints, most often your big toe. However, the inflammation can happen at any joint, including your knees, elbows, wrists, and hands. But gout can also spread to the ankles, feet, and wrists. Gout can cause pain, swelling, warmth, redness, and tenderness. The skin over the joint may look discolored and feel hot to the touch. Read here which diet and lifestyle you can use to get gout attacks under control.

Cystic fibrosis

Various genetic defects trigger Cystic fibrosis. They cause a specific transport mechanism for salts, the so-called ion channels, to malfunction.

In cystic fibrosis patients, too much salt remains in the cells. As the body strives for a balanced salt concentration, more fluid flows into the cells. At the same time, the lung and other organs’ secretions become very dense, causing massive breathing problems and digestive disorders.

Patients with cystic fibrosis suffer from severe respiratory and digestive problems. The cause is highly viscous body secretions.

Risk factors for Metabolic diseases

Many metabolic diseases develop solely as a result of genetic defects. For others, however, lifestyle factors play a role, allowing a predisposition to a metabolic disease to break through. Factors that influence many metabolic processes are:

  1. Diet: Too much sugar, animal fats, and highly processed foods promote, among other things, the metabolic disease of type 2 diabetes.
  2. Obesity: Body fat is not a passive storage tissue. It produces numerous hormones that also affect metabolic processes. The result can then be, for example, a metabolic syndrome with high blood pressure, high blood lipid levels, and insulin resistance.
  3. Smoking: Tobacco smoke contains over a hundred pollutants. These seem to include those that influence metabolic processes. Exactly how this works is still unclear. However, studies show that, among other things, smokers are about twice as likely to develop diabetes as non-smokers.
  4. Alcohol abuse: With heavy alcohol consumption, for example, the body forms more significant amounts of certain blood fats ( triglycerides ), and the liver stores fatter. In addition, the formation of new glucose is suppressed, which can cause hypoglycaemia when the sugar stores are empty. High levels of alcohol consumption also increase blood uric acid levels. Possible consequences are gout attacks.
  5. Shift work: People who work shifts are at higher risk of obesity, diabetes mellitus, and other metabolic diseases. One possible reason: shift work disrupts the internal clock, which also regulates the metabolism at different times of the day and night.
  6. Family risk: A family with a history of, for example, type 2 diabetes and gout is more likely to have a genetic predisposition to these metabolic diseases. A healthy lifestyle can prevent diseases from breaking out despite unfavorable hereditary factors.

How does alcohol affect the body and psyche? When does consumption become risky? And what damage can it cause? Find out here!

Obesity is morbid obesity. Read here when you start talking about obesity, how it develops, and what helps against it!
What does smoking do to the body and mind? What are the risks? And how do you get rid of nicotine addiction? Get information here!

Symptoms associated with Metabolic disorders

Bodily functions are based on countless metabolic processes. Metabolic disorders make themselves felt in a correspondingly diverse manner. Among other things, this includes:

Weight gain has many possible causes. Read here what helps against this.

Diagnosis of Metabolic disorders

The symptoms associated with metabolic disorders also occur with other diseases. So they are unspecific. This is why some metabolic diseases are not easy to recognize. At the beginning of the diagnosis, there is usually an exclusion procedure of other illnesses, so the doctor first checks for other possible causes of the symptoms. If these are not present, a metabolic disease becomes more likely.

Because many metabolic disorders are inherited or have a genetic involvement, knowing family history can put doctors on the right track.

How are metabolic diseases diagnosed?

In particular, determining hormone levels and other blood tests can provide indications of metabolic diseases. Conspicuous changes in thyroid hormone values ​​explain, for example, exhaustion and weight changes with no change in lifestyle. High blood sugar levels in the urine indicate diabetes. Elevated uric acid levels indicate gout and can cause inflamed and painful joints.

If the metabolic disorder is due to a genetic cause, this can be clarified using genetic tests. In newborn screening, doctors examine all newborns for the most critical disorders. Early treatment can prevent or at least alleviate consequential damage in some diseases.

During the blood test, the blood’s components and the number and composition of its solid components are analyzed. Read more about it!

Screening Tests for Children are preventive examinations of the child. They aim to identify and treat diseases or developmental disorders early. Please read all about it here!

What are the treatment options for Metabolic disorders?

The treatment of metabolic disorders depends on the type of disease and the severity of the symptoms. However, the treatment options for severe, particularly rare, inherited metabolic diseases are often limited. Read more about the treatment options in the individual disease descriptions.

  1. Drugs: Many metabolic diseases can be treated well with medications. This applies, for example, to gout and diabetes or many lipid metabolism disorders and thyroid function disorders.
  2. Dietary changes: Some metabolic disorders can be improved by eliminating certain foods. In the case of certain hereditary metabolic diseases, this is even the most critical therapeutic measure. Many patients with metabolic disorders also benefit from weight reduction.
  3. Physiotherapy: Some symptoms of metabolic diseases can be alleviated by physiotherapeutic measures. In the case of cystic fibrosis, for example, daily inhalations are necessary to relieve breathing problems and help the sufferer cough up the thick mucus from the bronchi.

Physical therapy, or Physiotherapy, is a medical specialty concerned with preventing, diagnosing, and treating injuries and illnesses involving the musculature, nerves, tendons, ligaments, or other connective tissues. Physical therapy helps people of all ages get moving again, recover from injuries, and guard against future injuries. Read more about it!

Scientific standards:

This text corresponds to the requirements of specialist medical literature, medical guidelines, and current studies and has been checked by medical professionals.