Metabolic disorder – What does it mean?

What is a metabolic disorder?

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

But also an insufficient or excessive intake of certain nutrients can lead to a metabolic disorder. This leads to an imbalance in a section of the metabolic cycle and an excessive accumulation of a nutrient or a building block. Depending on the metabolic disorder, a wide variety of symptoms can occur.

What metabolic disorders are there?

One of the most well-known metabolic disorders: Diabetes Mellitus Iron metabolic disorder Hyperthyroidism or hypothyroidism Gout Cushing’s disease Cystic fibrosis Adrenogenital syndrome Hypertriglyceridemia Phenylketonuria

  • Diabetes Mellitus
  • Iron metabolism disorder
  • Over- or underactive thyroid gland
  • Gout
  • Cushing’s disease
  • Cystic Fibrosis
  • Adrenogenital syndrome
  • Hypertriglyceridemia
  • Phenylketonuria

Diabetes mellitus, popularly known as diabetes (diabetes), is a chronic metabolic disease that is caused by an absolute or relative lack of insulin. The hallmark of this disease is a permanent elevation of the blood sugar level (hyperglycemia) and urine sugar. The cause is the insufficient 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 diabetes type 1 and diabetes type 2. An iron metabolism disorder results in an imbalance of 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 due to insufficient intake with food or through menstruation. This leads to various symptoms, such as fatigue, concentration problems or hair loss.

In pronounced forms, it can lead to iron deficiency anemia, resulting in changes in the blood. The opposite, i.e. an overload of the body with iron, also called siderosis, leads to the accumulation of iron, for example in the lungs. Therefore a balanced diet is very important.

An overactive thyroid (hyperthyroidism) is when the thyroid (thyroidea) produces more thyroid hormones (T3 and T4) so that an excessive hormone effect is achieved at the target organs. In most cases, the disease is caused by a disorder in the thyroid gland itself. The thyroid hormones increase the overall metabolism and promote 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. Hypothyroidism occurs when the thyroid gland produces insufficient amounts of thyroid hormones (T3 and T4). The consequence is that the hormone action on the target organs fails.

Gout is a metabolic disorder in which uric acid crystals are deposited mainly in the joints. Uric acid is produced in the human body, among other things, during cell death and the breakdown of cell components (e.g. the DNADNS = deoxyribonucleic acid). 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 a messenger substance in large quantities, the so-called adrenocorticotropic 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 ACTH in enormously increased quantities, the cells of the adrenal cortex are also stimulated to overproduce it.

This ultimately leads to a strongly increased cortisol occurrence, which is called hypercortisolism in medical terminology. Cystic fibrosis is a hereditary disease. The inheritance is medically called autosomal recessive.

Cystic fibrosis (cystic fibrosis) is therefore not inherited on the sex chromosomes X and Y, but on autosomal chromosome no. 7. The mutation is located on the so-called CFTR gene.The chloride channels coded by this are defective.

The defective chloride channels lead to the formation of viscous mucus in all exocrine glands. These include the exocrine glands present in the respiratory system. In cystic fibrosis, for example, symptoms such as breathing problems occur because the lungs become clogged with mucus, the small airways (alveoli, bronchioles, etc.)

become blocked and the cilia do not manage to transport the mucus and inhaled foreign particles outside as usual. The adrenogenital syndrome is a hereditary disease caused by a genetic defect. There are different forms of the disease.

Depending on the form of the disease, the symptoms are present from birth or do not appear until puberty. Due to the enzyme defect, there is on the one hand a deficiency of certain hormones and on the other hand an excess of androgens, the male sex hormones. The therapy consists in the lifelong substitution of the missing hormones.