Menkes syndrome is an X-linked recessive inherited disorder of copper metabolism, in which the intestine does not sufficiently absorb the trace element. The undersupply of copper manifests itself in the muscles, in the nervous system and in the skeleton. The disease is currently incurable and has an unfavorable prognosis.

What is Menkes Syndrome?

Menkes syndrome is also known as Menkes disease. This disease corresponds to an inherited metabolic disease. The disease mainly includes a disturbance of the copper metabolism. Copper is the third most common trace element in the human body. The skeleton and muscles as well as the brain and liver contain copper. In addition, the substance is involved in the formation of connective tissue. See AbbreviationFinder for abbreviations related to Menkes Syndrome.

As a component of enzymes such as superoxide dismutase, the trace element also protects the body from free radicals and oxidative stress. Apart from these functions, copper also performs tasks in energy production. Copper deficiency has a correspondingly negative effect on the body.

A chronic copper deficiency is present in Menkes disease. The syndrome is named after JH Menkes, who first described it and documented the disease in the 20th century. Other diseases with copper deficiency as the main symptom are such as Wilson’s disease, which is associated with comparable symptoms. With a prevalence of one in 100,000, Menkes disease is slightly less common than Wilson’s disease.


The cause of Menkes disease is a genetic defect caused by a mutation in the ATP7A gene. The ATP7A gene encodes an intracellular copper transport protein. With normal copper intake, the mutation leads to a disturbed copper release. The absorption of copper in the intestine is impaired and the trace element is distributed incorrectly. Decreased concentrations are present in the liver and brain, while the concentration in the intestinal cells, heart, pancreas and kidneys is increased.

Menkes disease is genetically located at site X 13.3. and therefore only affects boys. Girls can wear the defect without facing any problems. Unlike boys, they have a second X chromosome. The gene product of the second, healthy chromosome can therefore reverse the impairments of the first. Menkes syndrome is inherited in an X-linked recessive manner.

Symptoms, Ailments & Signs

Infants with Menkes syndrome are usually asymptomatic for the first eight to ten weeks of life. Severe muscle weakness only sets in after about two months. Feeding problems and developmental disorders occur. The copper deficiency in the brain can manifest itself in epileptic seizures and restricted mobility.

Scaling rashes often appear on the less elastic skin of the patients. The hair, eyelashes and eyebrows become crooked, brittle and turn white to silver-grey. The face usually appears expressionless and sunken. In addition, skeletal changes such as a funnel chest can occur. Hernias and umbilical hernias often accompany the clinical picture. Depending on the course of the disease, severe fractures and vascular changes can already occur at this time.

Diagnosis & disease progression

If Menkes disease is suspected, the doctor will take a urine and plasma sample. The laboratory checks the plasma for the copper storage protein ceruloplasmin. The general copper level is also determined in both samples. X-rays confirm the suspicion of Menkes disease with vertebral anomalies and shift bones. Cell deaths in the thalamus or cerebellum can also confirm the suspicion.

These phenomena can be observed via an MRI if necessary. A molecular genetic examination of the ATP7A gene can finally provide evidence of a mutation. The prognosis is generally poor for patients with Menkes syndrome. Most of those affected do not reach adulthood. In particularly severe cases, patients die while still in the infant phase. The type and location of the gene mutation has the greatest impact on the prognosis. Early detection of the disease can have a positive prognostic effect.


In many cases, the first symptoms of Menkes syndrome only appear a few months after birth, so that direct and early treatment of this complaint is not possible. The patients primarily suffer from severe muscle weakness and thus reduced resilience. Especially in children, this muscle weakness can lead to significant limitations in development and thus also significantly reduce the patient’s quality of life.

Furthermore, it is not uncommon for epileptic seizures to occur, which can lead to severe pain. The skin of those affected is reddened and usually scaly. The muscles in the face can hardly be moved, so that those affected often appear listless and exhausted. Not infrequently, the parents are also affected by Menkes syndrome and suffer from psychological problems or depression.

Unfortunately, a direct and causal treatment of the syndrome is not possible, so the treatment is only aimed at limiting the various symptoms. However, there are no further complications. Those affected are dependent on medication. Various therapies can also relieve the symptoms. As a rule, the life expectancy of the patient is not reduced by Menkes syndrome.

When should you go to the doctor?

If irregularities occur in a newborn child in the second or third month of life, a doctor should be consulted. Menkes syndrome is characterized by severe muscle weakness and problems with feeding. The symptoms are not present in the first few days after birth, but are already evident within the first eight weeks of life. If parents notice that their offspring is losing muscle strength, they should consult a doctor as soon as possible. Restrictions in mobility or abnormalities in the movement sequences are further signs of an existing disorder. They must be examined by a pediatrician immediately. If the child suffers from epileptic seizures, great care is required.

After any seizure disorder, a doctor should be consulted so that a comprehensive medical examination can be carried out. In the case of growth disorders or irregularities in the development of the child, a doctor should be consulted. Frequent bone fractures or changes in the skeletal system indicate discrepancies and should be investigated. Abnormalities in the complexion, scaling of the skin or peculiarities of the hair, eyebrows and eyelashes must be presented to a doctor. Since the disease has a poor prognosis, it is advisable to see a doctor as soon as possible if there are any changes. The sooner symptoms are treated, the better doctors can shape the child’s quality of life within the framework of the given possibilities.

Treatment & Therapy

Menkes syndrome is incurable. So far, only symptomatic therapies are available. The disease prevents the absorption of copper in the intestine. Therefore, nothing can be done therapeutically by oral administration of copper. Instead, copper must be given parenterally, so the substance does not have to pass through the gastrointestinal tract. Copper histidinate is usually administered. This substance has proven to be the most tolerable and at the same time most effective form of therapy. The copper histidinate is injected into the subcutaneous fatty tissue.

As a copper transport protein, it occurs in the blood and penetrates the blood-brain barrier into the brain. Ideally, treatment begins before the nervous system is damaged. If the therapy is only started later, the substance can usually no longer delay the progressive course of the disease. In most cases, early administration of copper histidinate has a positive effect on the neurological development of those affected.

However, the manifestation of the disease in the connective tissue cannot be influenced by this form of therapy. A causal therapy is not yet available. In the future, medicine may develop an original treatment by replacing the mutant gene. In animal experiments, a cure has already been achieved by adding an ATP7A gene.

Outlook & Forecast

Menkes syndrome has an unfavorable prognosis. The patient suffers from a hereditary metabolic disorder. Since changes in genetics are not possible, doctors can only treat the symptoms that arise as best they can.

Developmental disorders and seizure disorders are characteristic of the disease. In the first few months of life, there are usually no health problems. As a result, the hereditary disease only appears and can be diagnosed after a few years. Drugs are administered to prevent the absorption of copper in the intestine. Without medical care, severe health impairments are to be expected. Muscle weakness, pain, reduced quality of life and numerous subsequent disorders occur. To alleviate the symptoms, the person affected is dependent on drug treatment for the rest of their lives. As soon as the prescribed drugs are discontinued, regressions of the irregularities should be documented immediately.

The prognosis is significantly worse if the nervous system is already affected by damage. This is particularly the case when the diagnosis is made at an advanced stage. In these cases, the neurological development can no longer be influenced. With an early diagnosis, the course of the disease can be positively supported to a considerable extent. Nevertheless, there is currently no treatment option to adequately treat the disease in the connective tissue.


Since Menkes syndrome corresponds to an inherited gene mutation, the disease cannot yet be prevented. The risk for a sick child can be estimated during child planning under certain circumstances using a molecular genetic sequence analysis.


Since the treatment of Menkes syndrome is relatively complex and lengthy, follow-up care focuses on dealing with the condition with confidence. Those affected should try to keep a positive attitude despite the adversity. To build these, relaxation exercises and meditation can help calm and focus the mind.

Menkes syndrome is associated with various serious complications and symptoms, all of which can have a very negative impact on the quality of life and everyday life of those affected. Therefore, a doctor should be contacted as soon as the first signs and symptoms of the disease appear, so that the symptoms do not worsen further.

Persistent muscle weakness and disturbances in child development can lead to bullying or teasing in everyday life. If psychological upsets become apparent that last longer, a psychologist should be consulted and this should be clarified. Sometimes therapy can help to better accept the disease and the treatment process.

You can do that yourself

Menkes syndrome cannot yet be cured. Therapy focuses on treating the symptoms and symptoms. Parents who notice developmental disabilities and symptoms of muscle weakness in their child should speak to a doctor first. In consultation with the doctor, an individual therapy can then be started.

The first step is to alleviate the symptoms with orthopedic and physiotherapeutic measures. The affected children need a lot of support and affection, especially in the first years of life. It should also be ensured that the patient moves a lot and eats healthily. While this does not relieve symptoms, it improves the child’s well-being and quality of life. At the same time, you should talk to the child about the illness. In this way, it learns to understand the symptoms and their effects and, in most cases, can deal with them better.

If the course is severe, therapeutic support is indicated, since in most cases the affected children die before they reach adulthood. Which measures are to be taken in detail should be clarified with regard to the condition of the child and in consultation with the doctor responsible.


Menkes Syndrome Guide