Metabolic disease

Metabolic disease, symptoms and treatment. A metabolic disease often occurs in the baby, but can also develop or manifest itself later. Nowadays treatment can be done reasonably well, but a metabolic disease can still cause life to end prematurely. Certain enzymes play an important role during metabolism. When one of these enzymes is missing or deficient, metabolism is disrupted. This gives typical symptoms and complaints, depending on the type of disease.

What is a metabolic disease?

A metabolic disease is a disorder in the metabolism. Metabolism consists of a number of processes in which substances are continuously broken down and built up. These are chemical processes. In a metabolic disease, the production of a certain chemical substance is disrupted. This often results in a deficiency, but also sometimes an excess of this substance. This results in all kinds of unpleasant physical complaints. A metabolic disease can often be noticed at a young age, but can also develop or become apparent later. It is usually congenital and can lie dormant for years without causing any obvious complaints, only to suddenly rear its head. There are more than 600 metabolic diseases.
A metabolic disease usually involves a deficiency of a specific enzyme. An enzyme is a specific protein that the body needs for metabolism. Metabolism can consist of various processes such as the conversion of carbohydrates into glucose (fuel for the body). Proteins can be broken down into amino acids (building materials for cells). There are many more processes that can be mentioned, but they are so complicated and irrelevant that we limit ourselves to the most common metabolic diseases and their complaints.


In most cases, a metabolic disease is hereditary. Many people are carriers of a certain gene that can cause a metabolic disease. In addition, some metabolic diseases arise as a result of improper nutrition. Diabetes is a typical example of this.

Diabetes or diabetes

Probably one of the most well-known and common metabolic diseases: diabetes. In this disease there is a deficiency of insulin. Insulin is a hormone that plays an important role in the metabolism of glucose. A deficiency of insulin leads to too much glucose remaining in the blood. The result is weakness, sweating, tingling hands and feet, frequent urination and drinking, dry mouth and eye problems. A hypo can occur: the blood sugar level becomes too low. A hyper also occurs due to high blood sugar levels. Diabetes can cause a heart attack and diabetes can be fatal. The latter is often underestimated. Many people think that diabetes is easy to live with and it doesn’t matter whether you get it or not.


Gout causes pain in the joints, making them difficult to use. Gout is a metabolic disease that mainly occurs in old age. It is caused by uric acid crystals that deposit in joints and tendons. The result is joint pain and loss of joint function. Pain often occurs at night, usually in the big toe. Gout lumps may develop near the joints. Gout is a rheumatic disease and can cause heart failure. Gout can be treated reasonably well, but there are often pain complaints that are difficult to deal with.

Cystic fibrosis

Another name for cystic fibrosis is cystic fibrosis. This metabolic disease is caused by a defect in a certain protein. The mucus formed in the body is tougher than usual. This includes mucus in the lungs, stomach, intestines and elsewhere in organs. Many patients develop chronic pneumonia or bronchitis. Patients often lose weight and have to eat much more than normal. People with cystic fibrosis have a high chance of dying prematurely. Life expectancy is on average 45 years. Although this is low, it is already a significant improvement compared to 50 years ago: when the average life expectancy was 10 years.


The metabolic disease porphyria causes a deficiency of hemoglobin in the blood. Hemoglobin is the red pigment of the blood and binds oxygen so that it can be transported to the various tissues. It is caused by a certain enzyme not being produced by the liver. An important symptom is a red color of the urine when viewed in daylight.
There are many more metabolic diseases, many of which are rare. New metabolic diseases or a variant of an existing metabolic disease are still being discovered.

Treatment and cure of metabolic diseases

Most metabolic diseases cannot be cured. People therefore remain patients for life. However, one can try to reduce the complaints as much as possible and make and/or prolong life as pleasant as possible. However, some metabolic disorders are fatal, while others are quite manageable. Treatment often consists of medication or surgery. The diet is often adjusted, which can significantly reduce the complaints.

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