What is Hereditary Zinc Deficiency Syndrome?

Hereditary zinc deficiency syndrome is a hereditary disorder of zinc absorption in the intestine. The same symptoms develop as with acquired zinc deficiency syndrome. The disease can be treated very well by lifelong substitution of zinc.

What is Hereditary Zinc Deficiency Syndrome?

The term hereditary zinc deficiency syndrome describes a hereditary absorption disorder of zinc in the intestine. The body absorbs too little zinc. The symptoms of this syndrome are the same as those of acquired zinc deficiency.

The disease was first described in 1936 by Swedish physician Thore Edvard Brandt. The Norwegian doctors Karl Philipp Closs and Niels Christian Gauslaa Danbolt coined the term acrodermatitis enteropathica for this syndrome in 1942. In addition to acrodermatitis enteropathica, the terms Brandt syndrome and Danbolt-Closs syndrome are therefore synonymous with hereditary zinc deficiency syndrome.

Zinc is an essential trace element that plays a major role in many metabolic processes in the body. Many enzymes responsible for carbohydrate, fat and protein metabolism contain zinc. In addition, zinc is also involved in the synthesis of nucleic acids and cell growth.

The immune system and various hormones are also dependent on the trace element zinc for their function. Furthermore, zinc is a component of certain proteins (zinc finger proteins) that are responsible for transcription. Due to the universal importance of the trace element zinc for the metabolism, a zinc deficiency leads to serious health problems.


The cause of hereditary zinc deficiency syndrome is a gene mutation in the SLC39A4 gene, which is located on chromosome 8. This gene encodes the zinc transport protein ZIP4. In the absence of this protein, the absorption process of zinc in the intestine is disturbed. A zinc deficiency syndrome then develops despite an adequate supply of zinc in the diet.

External factors are usually responsible for zinc deficiency. In only one to nine cases per million people, however, this zinc deficiency is congenital. The disease is inherited in an autosomal recessive manner. Both parents can be healthy.

However, if an offspring suffers from this disease, both parents also have at least one defective gene. Healthy parents with the defective gene have a 25 percent chance that their child will have hereditary zinc deficiency syndrome.

Symptoms, Ailments & Signs

The symptoms of hereditary zinc deficiency syndrome are similar to those of acquired zinc deficiency. However, the symptoms of this congenital disease begin shortly after weaning. Breast milk is rich in zinc and, despite the zinc absorption disorder, can still ensure sufficient zinc absorption in the body.

After weaning, however, skin changes, hair loss, nail bed inflammation and diarrhea begin. The skin changes manifest themselves as chronic eczema on the body openings and the acres such as hands, feet, nose, ears, chin, cheekbones and many others. The organism is severely immunocompromised.

As a result, those affected suffer from constant infections that are difficult to heal. Wound healing is also severely restricted. Children with hereditary zinc deficiency syndrome stop growing. Their physical and mental development is severely slowed down. Other symptoms include anemia, loss of appetite, weight loss, fatigue, general weakness and muscle wasting.

Recovery from illness is very slow. Add to that irritability and depression. Mental degradation is progressing. The prognosis for untreated hereditary zinc deficiency syndrome is very poor. In these cases, the disease is always fatal. However, with proper treatment, the patient can live an almost normal life.

Diagnosis & History

However, for the successful treatment of hereditary zinc deficiency syndrome, it must be diagnosed beyond doubt. It’s not that easy. Due to the rarity of the disease, misdiagnoses are often initially made. All symptoms that occur are also non-specific. It can be caused by a variety of diseases.

Early onset eczema on the body orifices and the acres can lead to the suspicion of a zinc deficiency. However, secondary streptococcal infections and candidiasis very often obscure the diagnosis. A strong indication of hereditary zinc deficiency syndrome is the sudden appearance of skin changes shortly after weaning.

The anamnesis of the family medical history is often helpful. Here it could turn out that several cases of similar diseases have already occurred in the family or relatives. That would indicate a hereditary disease. In addition to the chronic skin changes, an increased susceptibility to infections and slow wound healing also speak in favor of a possible zinc deficiency.

The suspicion of zinc deficiency can then be substantiated by blood tests. In addition to the zinc content, the hormone cortisol and the number of blood cells are also determined here. The blood usually contains 6 to 12 milligrams of zinc per liter.

The blood cells are reduced. However, the blood values ​​are not 100 percent meaningful either, because most of the zinc is stored in muscles, bones and other body tissue. The muscles account for 60 percent, the bones for 30 percent and the rest of the body tissue for 10 percent of the zinc contained in the body.


Since this disease usually leads to a reduced absorption of zinc through the intestine, the same symptoms occur as with the usual zinc deficiency syndrome. The affected person primarily suffers from hair loss and diarrhea. Furthermore, complaints can also develop on the skin, so that eczema, for example, can occur.

Not infrequently, the skin is also covered by a rash. The patient’s immune system is weakened by zinc deficiency syndrome, which means that infections and inflammation can occur more often and more easily. Furthermore, only slowed wound healing occurs in the affected person. This can also lead to infections in the wounds. Patients suffer from weight loss due to loss of appetite and from general fatigue and exhaustion.

Not infrequently, this can also result in psychological upsets or depression. Zinc deficiency syndrome can be limited and treated relatively well with the administration of supplements. The symptoms disappear very quickly and there are no particular complications. However, the affected person is dependent on the medication for the rest of his life, since a causal treatment of the zinc deficiency syndrome is not possible.

When should you go to the doctor?

Parents who notice symptoms such as hair loss, skin changes and nail bed inflammation in their child shortly after weaning should consult their pediatrician. The symptoms indicate a hereditary zinc deficiency syndrome, which must be clarified and treated immediately. A visit to the doctor is particularly indicated if the symptoms have not subsided after two to three days at the latest.

If other symptoms such as diarrhea or poor wound healing occur, a doctor must be consulted immediately. Anemia, loss of appetite, weight loss and tiredness are also typical warning signs that need to be clarified. Since those affected often suffer from irritability and depression, a psychologist should be consulted in addition to medical treatment. A hereditary zinc deficiency syndrome requires comprehensive treatment in any case.

After the original illness has been cured, close monitoring by a specialist is indicated, as the symptoms can recur. People who suffer from the disease and wish to have children should talk to their doctor. In addition, it must be determined during pregnancy whether the disease has been passed on to the child. In this way, treatment can be started immediately after birth.

Treatment & Therapy

The hereditary zinc deficiency syndrome can be treated very well with high doses of zinc in the form of zinc sulfate. The administration of zinc preparations must be adapted to the growth process. Increased zinc doses are required in childhood and adolescence. Zinc substitution must be lifelong and must not be discontinued.

Outlook & Forecast

Persons with hereditary zinc deficiency syndrome suffer from an inherited metabolic disease. Even small children show the typical symptoms. With appropriate therapy, there are good prospects for a normal life. However, a cure is impossible.

The disturbance in zinc absorption is given to the patient at birth. From a statistical point of view, it hardly ever occurs if you look at the absolute number of patients. Just one to nine people out of a million people suffer from hereditary zinc deficiency syndrome.

Patients need to take zinc supplements regularly. The dose should be adjusted to the stage of development. Growth phases in particular bring with them a high demand. If the prescribed preparations are consumed continuously, a largely symptom-free life is possible. If you don’t take it, there is almost always a risk of death.

Those affected are at a disadvantage if they have an infection or wounds. Hereditary zinc deficiency syndrome means that recovery is delayed. It is not uncommon for sick children and adolescents to develop comparatively slowly. This refers to both physical and psychological maturity. A mild to severe immune deficiency depends on how you are feeling on the day.


There is no recommendation for the prevention of hereditary zinc deficiency syndrome because it is a hereditary disease. If cases of this disease have already occurred in the family or relatives, human genetic counseling is recommended if you wish to have children.


In most cases, those affected with zinc deficiency syndrome do not have any aftercare measures available, since the primary task is to restore absorption of the element. The affected person should therefore consult a doctor as soon as the first symptoms and signs of the disease appear in order to prevent further complications or complaints. The earlier a doctor is contacted, the better the further course is, as a rule.

Since zinc deficiency syndrome is a genetic disease, those affected should consider genetic testing and counseling if they wish to have children, so that the syndrome does not recur in descendants. In most cases, people with Zinc Deficiency Syndrome will need to take medications and supplements to counteract the zinc deficiency. There are no particular complications.

It is important to ensure that the dosage is correct and that it is taken regularly, whereby the doctor’s instructions must be observed. As a rule, the person affected with zinc deficiency syndrome is dependent on taking the medication for life. Parents have to make sure that their children are taking it correctly. As a rule, the syndrome does not reduce the life expectancy of the person affected.

You can do that yourself

The hereditary zinc deficiency syndrome results from a hereditary disturbance of zinc absorption in the intestine. The symptoms are the same as with acquired zinc deficiency.

There are no causal self-help measures that those affected can take. Taking high doses of zinc, for example in the form of zinc sulphate, can eliminate the zinc deficiency. If the hereditary zinc deficiency syndrome has already been diagnosed, over-the-counter dietary supplements can also be used in emergencies or on vacation.

Hereditary zinc deficiency already sets in in small children, usually immediately after weaning. If the disease is recognized promptly and treated adequately, there is no risk of long-term damage. If left untreated, the disease leads to severe developmental disorders in the child and ultimately to death. Because it is an inherited disorder, people with a family history of the syndrome should become familiar with the symptoms when planning to have children.

You can then identify the rare disease promptly and ensure that your child is treated properly. Otherwise, because the disease is very rare, it can take a long time to be correctly diagnosed, which can lead to mental and physical developmental disabilities in the affected child.

Hereditary Zinc Deficiency Syndrome