• Tuesday July 7,2020

enzyme defect

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

What is an enzyme defect?

A large part of all enzyme defects is innate and goes back to genetic cause. For example, mutations in the DNA may involve genes coding for or encoding one or more of the enzymes involved in enzyme biosynthesis.
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An enzyme defect is always present when an enzyme is impaired in its biochemical activity due to structural changes. Enzymes are characterized by biochemical activity. These are substances from biological giant molecules with a catalytic function in chemical reactions.

In the human body innumerable reactions take place on a biochemical basis. As catalysts, enzymes accelerate the course of these reactions or even make 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 occurs as part of a protein biosynthesis by the ribosomes. In the metabolism of all organisms enzymes take over irreplaceable tasks and control the overwhelming share of all biochemical reactions. Some structural changes of the enzymes lead to disturbances or even completely abolish the biochemical activity of the enzyme.

As a consequence 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 available only to a lesser extent or not at all in the organism.

In addition to a faulty enzyme structure, the misguided 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 interferes with its biochemical activities. The symptoms of an enzyme defect are summarized as enzymopathies.


A large part of all enzyme defects is innate and goes back to genetic cause. For example, mutations in the DNA may involve genes coding for or encoding one or more of the enzymes involved in enzyme biosynthesis. In this way, a mutation, for example, can lead to a particular enzyme being assembled with the wrong structure.

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

Some enzyme defects are autosomal dominant, others are autosomal recessive and others are X-linked. In exceptional cases, mutations-related enzyme defects also occur in the context of sporadic processes and in this case are not called inherited mutations, but new mutations.

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

Symptoms, complaints & signs

Enzyme defects arise in most cases by incorrectly coded amino acid sequences of the DNA. However, this incorrect coding does not necessarily cause symptoms. Some patients with enzyme defects remain asymptomatic throughout their lives.

Whether an enzyme defect leads to an enzymeopathy with signs of disease depends on the one affected by the affected enzyme and on the other on the expression of its activity change. Enzyme defects of the most important key enzymes essentially all lead to serious disorders of various bodily functions and appear in most cases prenatally.

Particularly severe enzyme defects trigger an abortion. This means that the human is not viable from a certain loss of function of various enzymes. The consequence of enzyme defects is also often an idiosyncrasy or severe developmental delay.

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


The diagnosis of enzyme defects usually takes place by means of enzymatic analysis or is provided in the context of gene diagnostics. The prognosis of patients is strongly related to the enzyme involved and the extent of its activity change. While some enzyme defects do not cause symptoms, others have a lethal course.


An enzyme defect can cause various complications. In general, enzyme defects can appear before birth and cause serious disorders of the various body functions. In particularly severe cases during pregnancy, the child may be aborted.

Slight defects lead to developmental disorders that sometimes become noticeable throughout the life of the person affected. In addition, it can cause metabolic and hormonal disorders. A disturbed metabolism sometimes causes an unpleasant body odor in those affected.

Particularly common is a so-called phenylketonuria, in which several complications may occur. There is an increased risk of mental aberration, which can extend to the mental disability of the child. Patients in childhood increasingly suffer from epileptic seizures, disturbed muscle tensions and spastic twitching.

In addition, an increased irritability is usually added, which can develop in the course of severe mental disorders. Externally, the PCD shows by a fair complexion with blond hair and blue eyes. Rarely, severe pigmentation disorders occur. There is usually no serious complication in treating an enzyme defect.

When should you go to the doctor?

A visit to a doctor is necessary as soon as disturbances or irregularities of the metabolism show up. If a developmental disorder is detected in a growing child, a medical examination should take place. Since an enzyme defect in severe cases can be fatal, a doctor should be consulted in time for complaints from various areas.

If it comes to pain or restrictions on the functioning of different systems, a doctor is needed. For hormonal problems, mood swings or weight problems, a doctor should be consulted. If abdominal pain, discomfort of the cardiovascular system, insomnia or a general malaise, a doctor is needed.

If psychic abnormalities occur, there is cause for concern. Apathy, depressive episodes or listlessness should be discussed with a doctor if they persist unabated for several weeks. For cramps, emotional disorders, a general malaise, fever or disturbances of consciousness, a doctor should be consulted.

If the irritability increases in everyday life, it is advisable to talk to a doctor about the observation. If blood is repeatedly used in the urine or stool during the toilet, a doctor's visit is necessary. An inner restlessness, reduced performance limit and concentration problems should be examined and treated by a doctor. If changes in the appearance of the skin occur or if hair growth is disturbed, a doctor's visit is necessary. Pigmentation, swelling of the skin or discoloration should be investigated.

Treatment & Therapy

In most cases, enzymatic defects are congenital and therefore can not be cured as long as gene therapy approaches do not reach the clinical stage. The symptomatic treatment consists, as far as possible, in a so-called enzyme substitution. This therapeutic approach is a rather recent procedure and corresponds to the supply of missing enzymes from the outside.

The substitution must take place during a lifetime for genetic defects. With the supply of structurally immaculate enzymes, the corresponding reactions can be catalyzed to a lesser extent in the organism again. Functional losses of the enzymes can be compensated in this way. In the case of acquired enzyme defects or enzyme deficiency symptoms in the context of pancreatic insufficiency, for example acid-stable digestive enzymes have to be substituted.

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

Outlook & Forecast

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

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

When medical care is initiated, the patient's health improves significantly. There is an enzyme substitution. The person concerned must participate in regular examinations to compensate for imbalances and to optimize the dosage. In addition, a healthy lifestyle and a balanced diet improve the patient's health.

If pollutants such as alcohol, nicotine or other stimulants are avoided, the affected person can achieve a good quality of life without significant restrictions despite the enzyme defect. Once the treatment is stopped, it comes to a relapse.


Genetic enzyme defects can be prevented to a certain extent within the framework of genetic counseling in the family planning phase. For example, risk couples may decide against their own children, for example.


Since the enzyme defect is a congenital and hereditary disease, complete healing can not be achieved. The symptoms can only be treated purely symptomatically and not causally, so that the affected person is usually dependent on a lifelong therapy. Thus, the person concerned no special measures of aftercare available.

In the foreground of this therapy is the early detection of the enzyme defect, so that it does not lead to 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 the child wishes to have children. The measures for the treatment of this disease depend very much on the exact nature and extent of this defect, so that no general prediction can be made here.

The victims are usually dependent on the help of their family and friends in everyday life. A psychological support can also be very useful, and not only the affected person, but also the parents are often dependent on a psychological treatment. Whether and how the enzyme defect reduces the life expectancy of the individual can not generally be predicted.

You can do that yourself

The self-healing powers are unable to heal the innate enzyme defect itself. The patient has no options to cure the disease by self-help. The missing enzymes have to be made available to the organism at regular intervals.

To prevent the discomfort, the person concerned can repeatedly apply sunscreen creams on the skin. He can do this on his own responsibility and without a fixed dose daily. The ointments should be tested for compatibility and have a high sun protection factor. The direct sunlight is to be avoided in principle. The patient should wear clothing in which all body parts are well covered and have no light transmission.

The better the protection, the less skin changes occur. In addition, a good headgear and wearing sunglasses are recommended. If possible, especially in the summer months, the apartment either before sunrise or leave only after sunset. Itching should be avoided under all circumstances scratching and chafing. This additionally worsens the symptoms.

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 under no circumstances be neglected. Despite the disease, the joy of life can be promoted and the quality of life can be maintained.

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