Günther’s Disease

Günther’s disease is an autosomal recessive gene mutation of chromosome ten. The disease disturbs the enzyme activity and the biosynthesis of heme to the red blood pigment. Anemia and photosensitivity are among the most important symptoms.

Günther’s Disease

What is Günther’s disease?

The doctor understands Günther’s disease to be a rare hereditary disease. The condition is also known as congenital erythropoietic porphyria. It disrupts the biosynthesis of the iron-containing pigment in the red blood cells. This dye is also known as heme. Together with the globins, heme forms hemoglobin in healthy people. Red blood cells contain hemoglobin to carry oxygen. See homethodology for Myocardial Hypertrophy Overview.

The diseases must be distinguished from porphyria and transfusion reactions. Both can produce similar symptoms and are therefore important in the differential diagnosis. Diseases resulting from ammunition containing uranium are sometimes also referred to as Günther’s disease. However, this is technically incorrect and has no connection with the real Günther’s disease. There is also no connection between Günther’s disease and xeroderma pigmentosum. This condition produces similar symptoms. In this case, the cause is a genetic regeneration disorder of the skin cells.


The cause of Günther’s disease is a genetic defect. It is usually a defect in chromosome 10. This chromosome encodes an enzyme involved in porphyrin metabolism. The enzyme is also called uroporphyrinogen III synthase and can be found in all tissue types in healthy people. In addition to a total of seven other enzymes, the body also needs this uroporphyrinogen-III synthase for the biosynthesis of heme and globin.

In most cases, Günther’s disease is inherited via autosomal recessive inheritance. Both partners must carry the defective gene. However, the presence of the genetic defect does not immediately mean that the disease actually breaks out. In this way, two partners with the defect may also father a child without the defect. This scenario has the same probability as conceiving a sick child. However, the risk for children with the unbroken gene defect is twice as high.

Symptoms, Ailments & Signs

The first symptoms of Günther’s disease usually appear in early childhood. Dermal symptoms usually appear first. The skin of patients is generally more sensitive to light than that of healthy people. This light intolerance is related to the accumulation of the heme precursor uroporphyrinogen I. The inability to further process heme synthesis leads to this accumulation.

As a result, reddening and small blisters often appear on the skin of patients with Günther’s disease. These phenomena also sometimes turn into ulcers. In later stages of life, hyper- or hypopigmentation sometimes occurs on the skin and conjunctiva. Red or pink urine is also symptomatic of the disease. Patients’ teeth are often brownish or reddish-brown and fluoresce under long-wave UV light.

An enlarged spleen, hemolytic anemia and skin cancer are possible late effects of the disease. Sometimes, apart from the symptoms mentioned, patients show an intolerance to garlic. For this reason, the anemic Günther’s disease is now suspected to be the origin of the vampire myth.

Diagnosis & course of disease

The doctor receives a first indication of Günther’s disease from reddish or brownish urine. This discoloration can usually be observed shortly after birth. Early diagnosis can be crucial, especially for newborns with jaundice. Neonatal jaundice is often treated with light therapy. However, newborns with Günther’s disease would suffer severe burns from such light therapy.

Since even the parents who carried the defect are in most cases not affected, the family history plays a subordinate role in the diagnosis of the disease. The detection of uroporphyrinogen I in the urine can be provided by HPLC and is regarded as conclusive for the diagnosis. The prognosis for Günther’s disease is considered unfavorable, since only limited treatment options are currently available.


In most cases, the symptoms of Günther’s disease appear at a very young age. The children primarily suffer from an intolerance to light and can therefore also suffer from visual problems or complete blindness. Blisters and redness appear on the skin of the patients, which can severely limit the aesthetics of those affected. Children in particular can suffer from teasing and bullying, which can lead to mental illness.

Furthermore, the teeth of Günther’s disease are also affected, resulting in a brown discoloration of the teeth. The risk of the patient developing skin cancer also increases, so that those affected are dependent on regular examinations by the doctor. The patient’s quality of life is significantly reduced and restricted by Günther’s disease.

A causal treatment of Günther’s disease is not possible. Those affected are therefore dependent on various therapies and must protect their skin from burns. In most cases, there are no particular complications.

When should you go to the doctor?

Changes or abnormalities in the complexion must be examined and treated by a doctor. If there are already irregularities and peculiarities of the skin in children, a pediatrician should be consulted. A strong sensitivity to light influences is considered a warning sign of the organism and should be clarified. The formation of blisters, reddening of the skin or pain are signs of health problems. A doctor should be consulted as soon as the symptoms persist for a long time or increase in intensity. There is a need for action if there is swelling or ulcers on the organism.

They are of particular concern when they increase in size or spread throughout the body over a short period of time. Discoloration of the urine or teeth also indicate a disorder. Once the urine is repeatedly pink and is not triggered by physical exertion, medical attention is needed. Slightly brownish teeth are also considered unnatural and should therefore be presented to a doctor.

In the case of a general feeling of illness, inner restlessness or diffuse changes in the organism, a visit to the doctor is advisable. If the physical symptoms are accompanied by emotional or psychological problems, a doctor is needed. In the event of mood swings, behavioral problems or withdrawal from social life, a visit to the doctor is advisable. Children often show a tearful demeanor when exposed to prolonged light.

Treatment & Therapy

For the treatment of Günther’s disease, there are almost exclusively general measures available to treat the symptoms. One of these is protection from the sun. This protection is intended to prevent burns and reduce the patient’s increased risk of skin cancer. Surgically, allogeneic stem cell therapy can be considered as a treatment measure. The stem cells of another person are transplanted into the patient.

However, such operations involve high risks and sometimes do not lead to the desired success. The body’s immune system often initiates violent defense reactions because of the stem cells recognized as foreign. These reactions can be suppressed by immunosuppressants. However, patients with Günther’s disease must maintain drug therapy with immunosuppressive drugs for the rest of their lives after stem cell transplantation. It also makes them permanently more susceptible to general diseases.

In the meantime, medicine is also experimenting with causal surgical procedures for the causal therapy of the disease. The first gene therapies on living people have already been successful in the context of other diseases. However, fatalities have also occurred in gene therapy trials in the past. Gene therapy is currently (as of 2015) still one of the main areas of current research in medicine.

Outlook & Forecast

Günther’s disease offers an unfavorable prognosis. CEP is a serious disease that has life-threatening symptoms and is fatal in the majority of children with the disease. So far there is no causal therapy. Strict avoidance of sunlight and use of medications such as beta-carotene can improve symptoms. Treatment must be initiated early for this. In some cases, serious diseases can be treated with stem cell therapy.

Early diagnosis can improve the prognosis. The quality of life of the sick children is greatly reduced. Life expectancy is also limited, since anemia and carcinoma inevitably cause symptoms and severely restrict the patient.

The illness of the child represents a considerable burden for the relatives. They usually need therapeutic support. The affected child must also be supported, especially in severe cases that are physically and mentally stressful. The well-being can be improved by the administration of painkillers and other medications. The prognosis for Günther’s disease is made by the responsible pediatrician or a specialist in genetic diseases. He will take into account the symptoms, the constitution of the patient and a number of other factors.


As an autosomal recessive hereditary disease, Günther’s disease cannot be prevented. However, expectant parents or couples in family planning can use DNA sequence analyzes to assess the risks of the offspring becoming ill.


In principle, patients suffering from the rare hereditary disease Günther’s disease must strictly avoid sunlight. Staying outdoors is possible during the day and with appropriate protective measures. Normal sunscreen is unsuitable as a precaution, as these products filter out the UVA and UVB components of the light, but allow the blue light to pass through.

Those affected are therefore dependent on mineral-based sun protection and special protective clothing that covers the entire body. Since the blood-forming system does not work properly in Günther’s disease, a monthly blood transfusion is required. The genetic defect is associated with changes in the teeth, which is why regular check-ups and treatments by a dentist are recommended.

Some patients with Günther’s disease now receive a bone marrow transplant to treat the symptoms. In this case, lifelong intake of drugs that suppress the immune system and prevent rejection is required. The first year after the transplant is particularly critical because the body’s defense system needs this time to regenerate.

Therefore, patients are susceptible to infections of all kinds. To minimize the risk, contact with animals, plants, potting soil or compost should be avoided. Large crowds are also critical. The doctor treating you will give you further tips on how to behave.

You can do that yourself

If Günther’s disease has been diagnosed, those affected must primarily avoid sun exposure. It is advisable to wear suitable protective clothing when outdoors. The face and eyes can be protected by special protective masks and suitable sunglasses.

Should skin symptoms nevertheless occur, the doctor must prescribe a suitable preparation. If necessary, alternative medicine and various home remedies can also be used. This is particularly recommended for severe skin changes associated with itching, bleeding and other complications. If the defective cells are not treated early, scarring can develop. Since these are often also psychologically stressful, treatment must be carried out in any case. If the permanent skin changes put a strain on your psyche, you should seek psychological advice.

Morbus Günther can be effectively alleviated by self-help measures. However, comprehensive medical treatment is always necessary. Especially in the later stages of the disease, severe metabolic disorders can occur that cannot be alleviated independently and sometimes have an impact on the psyche and the entire body. A suitable treatment concept should then be developed together with the doctor. Regular use of the prescribed medication is essential for a speedy recovery.