A metabolism in perfect working order is the basis of human health. All the nutrition that you absorb from your food is first of all broken down in the body into ever smaller particles in a variety of different processes and then transported to the sites where it will be used. If, on this long journey, a problem arises at some point, generally because of a missing enzyme needed to convert one molecule into another, the result is a metabolic disorder. Often it is only experts - the most familiar with the countless metabolic routes in the body -, who are able to make the right diagnosis and prescribe the urgently needed therapy.

Overview

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Metabolic disorders - Further information

Metabolic disorders are generally unspecific in their manifestation

Human metabolism can be subdivided into several sub-areas:

  • lipometabolism,
  • protein metabolism,
  • carbohydrate metabolism and
  • mineral metabolism.

The best known metabolic disorder is diabetes mellitus, where the hormone insulin no longer performs its intended function and so fails to absorb sugar from blood for transport into the cells. This expresses itself generally as fatigue, physical weakness and increased thirst as the body excretes the sugar via urine.

Often the cause of metabolic disorders is a defective gene, so that the disorder is congenital. However, this does not mean that the defect makes an appearance at birth. Often, even congenital metabolic disorders only appear in the course of time or only if certain environmental aspects take effect as a trigger. Acquired metabolic disorders can make their appearance at any age. Their development is also furthered by unfavorable environmental factors, such as overweight, a lifestyle with little exercise or toxins in the environment like car exhaust fumes or cigarette smoke.

Generally, different metabolic disorders are also accompanied by a variety of symptoms. But there are some cardinal symptoms, which are often indications of metabolic malfunctions. These include:

  • major weight changes without you having altered your eating habits
  • fatigue and weakness or nervousness and restlessness
  • flushed skin or stinging pains
  • abdominal cramps, nausea and stomach ache

Diagnosis is made by blood and urine tests

If the appropriate symptoms are present and if a metabolic disorder is suspected, the patient's own doctor or the specialist previously consulted will carry out the relevant tests. Among the most important diagnostic procedures are blood tests, which help determine the hormone and enzyme levels and metabolic products. For example, thyroid gland hypofunction (underactivity) or hyperfunction (overactivity) can easily be diagnosed by reference to the differing hormone levels. Less common and less obvious disorders sometimes need several different blood and urine tests until the cause of the symptoms has been traced.

In most cases, metabolic diseases cannot be cured, often leaving the affected persons to take medication throughout their lives. However, with such medication they generally live a life free of discomfort. The medication replaces the substance that the body lacks and so ensures that metabolism functions once more as normal. If this is not possible, then in some circumstances you as the patient will have to follow a particular diet in the future to enable you to relieve the affected metabolic pathway and at least experience less discomfort.

Look here for specialists in metabolic diseases

You will often find specialists in the field of metabolic disorders in hospitals or specialist medical practices. If a congenital metabolic disorder is suspected in a newborn baby, the pediatric ward is the responsible place because the staff there are the most familiar with the needs and particular features of small children. The pediatrician is also an important point of contact at this stage.

If a metabolic disorder is suspected in patients of an advanced age, then endocrinologists and gastroenterologists are often the right contacts. Diabetologists are doctors who specialize exclusively in the commonest metabolic disorder, diabetes mellitus.

Metabolic disorders are often masked by unclear and extremely unspecific symptoms. Even so, they can normally be diagnosed, often easily, with blood and urine tests. Because the body is often unable to produce a particular enzyme or hormone, treatment consists in supplying this artificially. As a result, treatment continues throughout the patient's life because a complete cure is possible in only a few cases. Often it is necessary to follow a particular diet to alleviate the symptoms and not aggravate the disorder.