Enzyme defect

Enzymes are involved in almost every body process and especially in the metabolism of an organism. In the case of a genetic or acquired Enzyme defect the biochemical activity of the affected enzymes changes, which often leads to enzymopathy. Some enzyme defects and deficiency symptoms can now be compensated for with enzymatic substitution, which usually has to last a lifetime.

What is an enzyme defect?

The majority of all enzyme defects are innate and have a genetic cause. Mutations in the DNA, for example, can affect genes that code for one or more of the enzymes or carry codes for substances that are involved in enzyme biosynthesis.
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An enzyme defect always occurs when an enzyme is impaired in its biochemical activity due to structural changes. Enzymes are characterized by biochemical activity. These are substances made up of biological giant molecules that act as catalysts in chemical reactions.

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Innumerable reactions on a biochemical basis take place in the human body. As catalysts, enzymes accelerate the course of these reactions or even ensure that certain reactions take place in the human body. Almost all enzymes are made up of proteins. The catalytically active RNA is an exception.

In all other cases, the formation of enzymes in the cell takes place within the framework of protein biosynthesis by the ribosomes. In the metabolism of all organisms, enzymes take on irreplaceable tasks and control the majority of all biochemical reactions. Some structural changes in the enzymes lead to disorders or even completely cancel the biochemical activity of the enzyme.

As a result of an enzymatic defect, the formation of the enzymatically catalyzed synthesis products is affected by disturbances. This means that the synthesis products from the catalyzed reactions of the incorrectly structured enzyme are only available in the organism to a reduced extent or not at all.

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In addition to a faulty enzyme structure, the misdirected provision of an enzyme in the organic metabolism can also cause an enzyme defect. In this case, it is not the quality but the quantity of an enzyme that disturbs its biochemical activities. The symptoms of an enzyme defect are summarized as enzymopathies.

causes

The majority of all enzyme defects are innate and have a genetic cause. Mutations in the DNA, for example, can affect genes that code for one or more of the enzymes or carry codes for substances that are involved in enzyme biosynthesis. In this way, a mutation can, for example, lead to the assembly of a certain enzyme with the wrong structure.

An enzyme deficiency up to the complete absence of certain enzymes in the human organism can be due to mutations. In the case of adrenogenital syndrome, for example, there is a hereditary enzyme defect of 21-beta-hydroxylase. A mutation-related enzyme deficiency is the basis of favism. In this hereditary disease, the defect is due to glucose-6-phosphate dehydrogenase.

Some enzyme defects are autosomal dominant, others are autosomal recessive and still others are X-linked. In exceptional cases, mutation-related enzyme defects also occur as part of sporadic processes and in this case are not referred to as inherited mutations, but rather new mutations.

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Depending on the enzymes affected, an enzyme defect leads to different symptoms. Enzymopathies are always metabolic diseases that are caused either by enzyme deficiency, enzyme excess or congenital or acquired structural defects of enzymes.

Symptoms, ailments & signs

In most cases, enzyme defects result from incorrectly coded amino acid sequences in the DNA. However, this faulty coding does not necessarily have to cause symptoms. Some patients with enzyme defects remain asymptomatic for life.

Whether an enzyme defect leads to an enzymopathy with symptoms depends on the one hand on the affected enzyme and on the other hand on the extent of its activity change. Enzyme defects in the most important key enzymes essentially all lead to serious disorders of various bodily functions and in most cases appear prenatal.

Particularly severe enzyme defects trigger an abortion. This means that after a certain loss of function of various enzymes, humans are not viable. In addition, enzyme defects often result in idiosyncrasy or serious developmental delays.

Due to their role in metabolism, metabolic and hormonal disorders are the most common manifestations of enzyme defects. The most common metabolic disorder in newborns is phenylketonuria (PKU), which can also be traced back to an enzymatic defect, for example.

diagnosis

The diagnosis of enzyme defects is usually carried out by means of enzymatic analysis or is made as part of a genetic diagnosis. The patient's prognosis is strongly related to the enzyme concerned and the extent of its change in activity. While some enzyme defects cause no symptoms, others are fatal.

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Complications

An enzyme defect can cause a number of complications. In general, enzyme defects can appear prenatal and cause serious disorders of the various body functions. In particularly severe cases during pregnancy, the child can abort.

Slight defects lead to developmental disorders that can sometimes be felt throughout the entire life of the person affected. In addition, metabolic and hormonal disorders can occur. A disturbed metabolism sometimes also causes an unpleasant body odor in those affected.

So-called phenylketonuria occurs particularly often, and several complications can occur. There is an increased risk of mental undesirable developments, which can extend to the mental handicap of the child. Those affected suffer more from epileptic seizures, disturbed muscle tension and spastic twitching in childhood.

Usually there is also increased irritability, which can develop in the course of severe mental disorders. Outwardly, the PKD shows itself by a light skin color with blond hair and blue eyes. Severe pigment disorders occur rarely. There are usually no serious complications in the treatment of an enzyme defect.

When should you go to the doctor?

A doctor's visit is necessary as soon as metabolic disorders or irregularities appear. If a developmental disorder is found in an adolescent child, a medical examination should take place. Since an enzyme defect can be fatal in severe cases, a doctor should be consulted in good time if there are complaints in various areas.

If there is pain or if the functionality of different systems is restricted, a doctor is required.If you have hormonal problems, mood swings or weight problems, a doctor should be consulted. If abdominal pain, problems of the cardiovascular system, sleep disorders or general malaise set in, a doctor is required.

If psychological abnormalities occur, there is cause for concern. Apathy, periods of depression or listlessness should be discussed with a doctor if they persist for several weeks. Consult a doctor in the event of cramps, sensory disturbances, a general feeling of illness, fever or impaired consciousness.

If irritability increases in everyday life, it is advisable to speak to a doctor about observation. If blood is repeatedly noticed in the urine or stool when using the toilet, a doctor's visit is necessary. An inner restlessness, reduced performance limits and concentration problems should be examined and treated by a doctor. If there are changes in the complexion of the skin or if hair growth is disturbed, a doctor's visit is necessary. A pigment disorder, swelling of the skin, or discoloration should be examined.

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Treatment & Therapy

In most cases, enzymatic defects are innate and therefore cannot be cured as long as gene therapy approaches do not reach the clinical phase. As far as possible, symptomatic treatment consists of so-called enzyme substitution. This therapeutic approach is a rather newer method and corresponds to the supply of the missing enzymes from outside.

In the case of genetic defects, the substitution must last a lifetime. With the addition of structurally sound enzymes, the corresponding reactions can again be catalyzed to a sufficient extent in the organism. Loss of function of the enzymes can be compensated in this way. Acid-stable digestive enzymes, for example, must be substituted for acquired enzyme defects or enzyme deficiencies in the context of pancreatic insufficiency.

Not all enzyme defects can be compensated for by enzyme substitution. If, for example, certain enzymes are produced in excess, substitution makes little sense. Even an enzyme deficiency cannot always be treated with substitution. In these cases, treatment is purely symptomatic.

Outlook & forecast

The enzyme defect is a congenital or acquired disease that cannot be cured with the current state of science. For legal reasons, the genetic mutation cannot be changed, so that the patient has to live with impairments for life. Nevertheless, treatment of the individual symptoms is possible in most cases thanks to the medical options available. The metabolic disorder is treated very successfully in long-term therapy. There are only a few restrictions in everyday life.

If treatment of the enzyme defect is refused, a hereditary defect can result in a sudden termination of the pregnancy or a developmental disorder in the child. Adults suffer lifelong physical problems such as muscle problems or mental illness. The general efficiency is reduced and participation in social life is restricted due to the low level of well-being.

When medical care is initiated, the patient's health improves significantly. Enzyme substitution takes place. The person concerned must take part in regular examinations in order to correct imbalances and optimize the dosage. In addition, a healthy lifestyle and a balanced diet improve the patient's health.

If harmful substances such as alcohol, nicotine or other stimulants are avoided, the person affected can achieve a good quality of life without significant restrictions, despite the enzyme defect. Once treatment is stopped, there will be a relapse.

prevention

Genetic enzyme defects can be prevented to a certain extent with genetic counseling in the family planning phase. Risk couples can, for example, decide against having their own children.

Aftercare

Since the enzyme defect is a congenital and therefore hereditary disease, a complete cure cannot be achieved. The complaints can only be treated symptomatically and not causally, so that the affected person is usually dependent on lifelong therapy. This means that there are no special follow-up measures available to the affected person.

The focus of this therapy is on the early detection of the enzyme defect so that there are no further complications or worsening of the symptoms. In order to prevent the reoccurrence of the enzyme defect in the descendants, genetic testing and counseling can also be carried out if you wish to have children. The measures for treating this disease depend very much on the exact type and severity of this defect, so that no general prediction can be made here.

Those affected are usually dependent on the help of their family and friends in everyday life. Psychological support can also be very useful, whereby not only those affected, but also the parents often rely on psychological treatment. Whether and how the enzyme defect will reduce the life expectancy of the person affected cannot generally be predicted.

You can do that yourself

The self-healing powers are unable to heal the innate enzyme defect by themselves. The patient has no means of healing the disease through self-help. The missing enzymes must be made available to the organism at regular intervals.

To prevent the symptoms, the person concerned can repeatedly apply sunscreen ointments to the skin. He can do this on his own responsibility and without a fixed dose every day. The ointments should be tested for tolerance and have a high sun protection factor. Direct sunlight should be avoided as a matter of principle. The patient should wear clothing that covers all parts of the body well and that does not allow light to pass through.

The better the protection, the fewer skin changes occur. In addition, a good hat and sunglasses are recommended. If possible, especially in the summer months, the apartment should either be vacated before sunrise or after sunset. If itching, scratching and rubbing should be avoided at all costs. This makes the symptoms even worse.

In addition to the care and protection of the skin, mental stabilization is particularly important. Participation in social life or the planning of leisure activities should not be neglected under any circumstances. Despite the illness, the joy of life can be promoted and the quality of life can be maintained.