Metabolic Disorder - What does it mean?

What is a metabolic disorder?

Most of the substances that are important for the body have a kind of cycle that they go through in order to be absorbed or produced and processed in the body.
If this circulation no longer functions properly at one point, one speaks of a metabolic disorder.
It can arise, for example, from a deficiency in an enzyme, i.e. a processing protein.

Read more on the topic: Phenylketonuria

Inadequate or excessive intake of certain nutrients can also lead to a metabolic disorder.
This creates an imbalance in a section of the metabolic cycle and an excessive accumulation of a nutrient or building block.

Depending on the metabolic disorder, the most varied of symptoms can occur.

What metabolic disorders are there?

The most well-known metabolic disorders include:

  • Diabetes mellitus

  • Iron metabolism disorder

  • Hyperthyroidism or hypothyroidism

  • gout

  • Cushing's disease

  • Cystic fibrosis

  • Adrenogenital Syndrome

  • Hypertriglyceridemia

  • Phenylketonuria

Diabetes mellitus

Diabetes mellitus, popularly only called diabetes (Diabetes) is a chronic metabolic disease that can be traced back to an absolute or relative insulin deficiency.
The hallmark of this disease is a permanent excess of the blood sugar level (hyperglycaemia) and the urine sugar.

The cause is the inadequate effect of the hormone insulin on the liver cells, muscle cells and fat cells of the human body.
Diabetes mellitus is one of the most important diseases in internal medicine.
Diabetes mellitus is divided into type 1 and type 2 diabetes.

Iron metabolism disorder

With an iron metabolism disorder, there is an imbalance in the iron balance in the body.
The most common is iron deficiency, which occurs mainly in young women.
The reason for this is the loss of iron through insufficient intake with food or through menstrual bleeding.
This leads to a wide variety of symptoms, such as tiredness, difficulty concentrating or hair loss.

In pronounced forms, it can lead to iron deficiency anemia, as a result of which changes in the blood occur.

The opposite, i.e. overloading the body with iron, also known as siderosis, leads to the accumulation of iron, for example in the lungs.

Therefore, a balanced diet is very important.

Overactive / underactive thyroid

An overactive thyroid (hyperthyroidism) occurs when the thyroid gland produces more thyroid hormones (T3 and T4), so that an excessive hormone effect is achieved on the target organs.
Usually the disease is based on a disorder in the thyroid gland itself.

The thyroid hormones cause an increase in the overall metabolism and a promotion of growth and development.
In addition, the hormones influence the muscles, the calcium and phosphate balance, they stimulate protein production (= protein biosynthesis) and the formation of the sugar storage substance glycogen.

An underactive thyroid is when the thyroid gland produces insufficient amounts of thyroid hormones (T3 and T4).
The result is that the hormones do not have any effect on the target organs.


Gout is a metabolic disease in which uric acid crystals are deposited. comes in the joints.
Uric acid is produced in the human body, among other things during cell death and breakdown of cell components (e.g. DNA / DNA = deoxyribonucleic acid).

For more information on gout, read our related article: Gout - causes & therapy

Cushing's disease

In Cushing's disease, a mostly benign tumor of the pituitary gland leads to an increased cortisol level in the body.
The tumor cells produce large quantities of a messenger substance, the so-called adrenocorticotrope hormone, or ACTH for short.
This acts on the cells in the adrenal cortex and causes them to produce cortisol.

Since the tumor cells produce an enormously increased amount of ACTH, the cells of the adrenal cortex are also stimulated to overproduce.
This ultimately leads to a greatly increased cortisol occurrence, which is referred to in medical jargon as hypercortisolism.

Cystic fibrosis

Cystic fibrosis is an inherited disease.
The inheritance is medically referred to as autosomal recessive.
Cystic fibrosis (cystic fibrosis) is not inherited on the sex chromosomes X and Y, but on the autosomal chromosome 7.

The mutation is on the so-called CFTR gene.
The chloride channels thus coded are defective.
The defective chloride channels lead to the formation of thick mucus in all exocrine glands.
These include the exocrine glands present in the airway system.

In cystic fibrosis, symptoms such as breathing problems occur because the lungs become mucous, the small airways (alveoli, bronchioles, etc.) are blocked and the cilia do not manage to transport the mucus and the inhaled foreign particles outside as usual.

Read more about this incurable disease in our article: The incurable disease cystic fibrosis

Adrenogenital Syndrome

The adrenogenital syndrome is a hereditary disease caused by a genetic defect.
There are different forms of progression.
Depending on the course of the disease, the symptoms already exist from birth or do not set in until puberty.
The enzyme defect leads to a deficiency of certain hormones on the one hand and an excess of androgens, the male sex hormones, on the other.
Therapy consists in lifelong substitution of the missing hormones.

These are the causes of a metabolic disorder

Since the range of metabolic disorders is very large, the causes are also very diverse and different.

Some metabolic disorders, such as cystic fibrosis, are congenital and therefore genetic.
In this case, this means that the child is sick through the inheritance of a certain defect in the DNA.
In order to detect such congenital metabolic disorders at an early stage, examinations are carried out as standard during pregnancy and shortly after birth.

Diet also plays an important role.
In the case of an unbalanced intake of food or the avoidance of certain foods, the deficiency states can also lead to metabolic disorders.
For example, a lack of certain vitamins or an iron deficiency can arise.

Some metabolic disorders are caused by an interplay of various risk factors.
For example, the development of type 2 diabetes mellitus is favored by obesity, a lack of exercise and an unbalanced diet.

There are often various causes for a metabolic disorder.
The problem with gout is the excessive build-up of uric acid in the blood.
This usually arises from a disorder in kidney function.
Both congenital defects and a disorder caused by diabetes mellitus can be responsible for this.

Can a metabolic disorder be triggered by stress?

Almost all processes in the body are influenced by stress.
More cortisol and adrenaline are produced, which can also increase blood sugar levels, for example.

In addition, prolonged stress levels can lead to an increase in the breakdown of vitamins.
The reason for this is that mainly B vitamins are needed for the production of hormones such as norepinephrine and serotonin.
They are therefore needed to produce hormones that play a role in psychological processes or in the regulation of blood pressure.
This can lead to a lack of vitamin B due to stress if it is not sufficiently absorbed through food.

Read more about the symptoms that can be used to recognize a vitamin B deficiency: Vitamin deficiency - these are the symptoms

A metabolic disorder can be recognized by these symptoms

Since the range of metabolic disorders is very large and can affect a wide variety of organs or organ systems, the symptoms of the disease are accordingly very different.
However, there are a few more general symptoms that accompany several metabolic disorders.
However, it must also be borne in mind that these symptoms can often speak for other, more harmless diseases.
A doctor should therefore be consulted for clarification.

A change in weight can be associated with a metabolic disorder.
For example, if there is an underactive thyroid, it usually comes with weight gain.

Accordingly, weight loss often occurs with an overactive thyroid.

Problems with the gastrointestinal tract can also indicate a metabolic disorder.
If abdominal pain, nausea, vomiting or diarrhea occur regularly after eating, this may be due to the digestive tract not being able to use a certain nutrient properly.

Other possible symptoms of a metabolic disorder may be dizziness or fluctuations in blood pressure, such as those caused by common in diabetes mellitus.

How can you tell that overweight / weight gain is caused by a metabolic disorder?

Weight changes are typical of a metabolic disorder of the thyroid gland.
Underactive, also known as hypothyroidism, leads to weight gain, while overactive, known as hyperthyroidism, leads to weight loss.
Of course, it is difficult to infer a metabolic disorder from a change in weight.
However, there may be a few signs of this that should be watched out for if you are suspicious.

Typically, in the case of a metabolic disorder, the change in weight occurs without any change in the amount of food.
If there is any uncertainty about this, it should be documented how much is eaten per day and the weight progression should be observed at the same time.

In addition, hypothyroidism, for example, leads to a reduction in drive.
Those affected often feel tired and exhausted.

If the thyroid is overactive, however, nervousness and easy irritability are typical side effects that should be observed.

This is how the treatment / therapy takes place

Depending on the type of metabolic disorder, different treatment methods come into question.

Many metabolic disorders can or should be treated with medication.
If a certain substance is insufficiently available or produced in the disorder, it can be given in the form of tablets.

E.g. the therapy of an underactive thyroid, also called hypothyroidism, in a lifelong administration of the thyroid hormone L-thyroxine.
In type 2 diabetes mellitus, on the other hand, there are various drugs that improve the impaired metabolism of sugar.

With some diseases, such as type 2 diabetes mellitus, it is very important to maintain a healthy lifestyle.
Above all, this includes a balanced diet and regular exercise.
These measures should always be observed in conjunction with other therapies.

It can also rarely happen that an operation is considered as a treatment method.
This is the case, for example, with tumors that produce hormones themselves.
This includes e.g. the prolactinoma, a tumor of the pituitary gland in the brain.

You can read about the treatment options for an underactive thyroid in our detailed article:
Treatment of an underactive thyroid

Duration / forecast

Most metabolic disorders are chronic diseases that often last a lifetime.
However, if diagnosed early, the progression of the disorder can often be prevented for a very long time.
Consistent therapy and regular check-ups are crucial in order to coordinate any necessary changes in treatment.
As a result, most metabolic disorders also have a very good prognosis.
However, there are also metabolic disorders, such as Cystic fibrosis, in which life expectancy is significantly reduced.

What is a metabolic disorder in the brain?

A metabolic disorder in the brain can be understood to mean various diseases.

Most metabolic cycles are controlled by specific sections of the brain, the pituitary gland and the hypothalamus.
This is where some hormones are produced and released into the bloodstream, which in turn affect other hormones in the body and thereby various metabolisms.
This is also known as the hypothalamic-pituitary axis.

A disorder or disease in these parts of the brain can lead to a metabolic disorder.
An example of this is the prolactinoma, the most common tumor of the pituitary gland.
The excessive production of the hormone prolactin results in the production of breast milk regardless of the breastfeeding period and a lack of menstruation.

Furthermore, a metabolic disorder in the brain can result from changes in the brain metabolism.
This means that, for example, a lack of sugar or other nutrients in the blood leads to an undersupply of the brain tissue.
This causes the brain to become sick, which often occurs e.g. is expressed in disorders of consciousness.

What tests for a metabolic disorder are there?

If a metabolic disorder is suspected, the blood should always be examined by means of a blood sample.
Most of the substances that are important in the various metabolic cycles can be detected in the blood.

If one of these substances is greatly increased or decreased, conclusions can be drawn about the exact location of the disturbance in the circulation.
Depending on the type of metabolic disorder, there are also different tests that can help to detect the disorder and its extent.

In order to prove diabetes, the level in the blood can be determined before and after the administration by administering sugar.
Certain values ​​can then be used to check whether the body is able to break down the sugar.

The most common congenital metabolic disorders are examined by default in every newborn.
To do this, a small amount of blood is drawn, which is then tested for various diseases with the help of special genetic tests.

These include, for example, the adrenogenital syndrome, phenylketonuria and, for a few years now, cystic fibrosis.
If the result of the genetic test is positive for the latter disease, a sweat test is carried out to examine the salt content.
This is typically increased in cystic fibrosis.

How does the alternative practitioner diagnose a metabolic disorder?

Various methods are used by a naturopath to diagnose a metabolic disorder.

One method is to examine the urine, also known as urine function diagnostics.
A urine sample is examined based on various criteria, such as color or precipitations.
This allows conclusions to be drawn about metabolic disorders.

Many alternative practitioners also use the method of iris diagnosis to diagnose a metabolic disorder.
Iris diagnosis is based on the assumption that the organs of the body are connected to the iris. They are represented on the iris at different sections. For example, the portion of the iris located on the nose reflects the thyroid gland.
Based on this assumption, in the event of changes in the iris, such as lightening or color changes, conclusions are drawn about the respective organ.
In this way, metabolic disorders can also be discovered through diagnosis of the iris.

You can read about how and whether an iris diagnosis really works in our relevant article: Iris Diagnosis - Does It Really Work?

The diagnosis

If a metabolic disorder is suspected, there are different methods of making the diagnosis, depending on the type of disorder.

In most cases, a blood sample is very helpful, as the amount of many substances that play a role in the metabolic cycle can be detected here.
If it is an inherited metabolic disorder, a genetic test can be performed to establish the diagnosis.

If gout is suspected, an affected joint can be punctured.
A sample of the synovial fluid is taken, which contains certain deposits in the gout disease.

Which doctor treats metabolic disorders?

There are various doctors who can be used to treat a metabolic disorder.

In general, the endocrinologist, i.e. the specialist in hormonal disorders, is responsible for treating all metabolic disorders.
For the most common metabolic disorders, there are also their own smaller specialist areas, such as the diabetology or the rheumatologist.

In the case of a diagnosed and easily treatable metabolic disorder, care can usually also be provided by a family doctor.

The course of the disease

The course of a metabolic disorder can vary greatly depending on the type of disorder and its extent.
The time of diagnosis and how advanced the metabolic disorder is at this point is also decisive.
If the disease responds to the therapy and further measures, e.g. If you change your diet, the course is often relatively mild.

Many people who suffer from common metabolic disorders such as hypothyroidism or diabetes mellitus, can lead a relatively normal life despite the disease.