Menkes Disease

Published Date : Feb 2024
Category : Genetic Diseases
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“Unveiling the Hidden Treasure: Exploring the Potential of Menkes Disease Research”

Menkes disease is a hereditary illness characterized by impaired body absorption and distribution of copper to various body organs. Both physical and mental development are impacted by the illness.

Menkes disease is a relatively rare condition, affecting about 1 in 35,000 live births worldwide. It occurs more frequently in males than females due to its X-linked recessive inheritance pattern. This means that a male only needs to inherit one mutated copy of the ATP7A gene from his mother to be affected, while a female needs to inherit two mutated copies (one from each parent) to develop the disease.

The Menkes disease symptoms typically appear in infancy, often between the ages of 2 and 6 months. Some of the most common symptoms include Menkes kinky hair syndrome, sagging facial features, failure to thrive, feeding problems, decreased muscle tone (hypotonia), low body temperature, seizures, intellectual disability and development delay, and skeletal changes.

However, a genetic mutation abnormality in the ATP7A gene is the cause of Menkes disease. The flaw makes it more difficult for the body to move copper throughout the body in the right amounts. This causes copper to accumulate in the kidneys and small intestine while the brain and other bodily regions do not receive enough of it. A low copper content interferes with nerve function and alters the formation of blood vessels, skin, hair, and bone.

The risk factors of Menkes syndrome are usually inherited, which means it runs in families. Since the gene is located on the X chromosome, if a woman possesses the defective gene, each of her boys is going to have a 50% (1 in 2) chance of contracting the sickness, and 50% of her daughters' become carriers of the condition.

Moreover, Menkes syndrome is a condition that alters the body's copper levels. It is characterized by kinky hair disease, scant hair, brittle hair, sparse hair, steely hair, a failing neurological impairment system, an inability to grow and put on weight, and a failure to flourish. Hypotonia, or poor muscular tone, drooping facial features, seizures, intellectual incapacity, and developmental delay are other indications and symptoms. Usually starting in infancy, children with Menkes syndrome do not live past the age of three. In certain cases, early copper therapy improves the prognosis. Seldom symptoms start later in childhood.

Copper imbalance in Menkes syndrome

In October 2023, research from Texas A&M University showed promising results for a potential Menkes disease cure using Elesclomol, a drug already approved for other conditions, in combination with copper. This combination therapy improved survival and reduced neurological symptoms in mice with the disease.

Menkes disease is diagnosed by a blood test that measures copper levels. Genetic testing is additionally used to confirm the diagnosis. There is no cure for Menke's disease, but treatment helps to manage the symptoms and improve the quality of life for patients. Treatment typically involves copper supplementation, which is able to be given orally or intravenously. In some cases, bone marrow transplantation is also recommended.

Disease Landscape Insights (DLI) healthcare consultancy firm plays a pivotal role in helping market players navigate the dynamic and competitive landscape of the menkes disease market, ultimately contributing to the development and delivery of more effective menkes disease diagnostics and treatments.

Diagnostic Analysis -

Menkes disease is diagnosed based on distinctive radiological, biochemical, and clinical characteristics. Frequently, the diagnosis is suggested by the distinctive clinical symptoms.

Biochemical Evaluation -

A biochemical assessment is crucial in the diagnosis of Menkes disease. In Menkes disease, serum copper and ceruloplasmin levels are often low, ranging from 0-55 microgram/dl and 10-160 mg/dl, respectively. Normal ranges are between 70-150 micrograms/dl and 200-450 mg/dl. Infants under six months old usually have low amounts of these substances. Therefore, biochemical lab results should never be interpreted in isolation without further testing. In this case, a quick diagnostic test that shows signs of dopamine beta-hydroxylase insufficiency is able to be performed using plasma catecholamine analysis.

Blood Tests -

1) Ceruloplasmin Blood Test - A ceruloplasmin blood test is often used to help diagnose Menkes disease. The Ceruloplasmin blood test is a simple blood test that measures the level of ceruloplasmin, a protein that binds to copper and helps transport it throughout the body. Ceruloplasmin carries about 65% to 90% of the copper found in blood. 

Normal ceruloplasmin levels in adults typically range from 20 to 35 milligrams per deciliter (mg/dL). In babies with Menkes disease, ceruloplasmin levels are usually below 10 mg/dL.  

Since Menkes disease disrupts copper metabolism, it often results in low ceruloplasmin levels in the blood. Therefore, a ceruloplasmin blood test is a valuable tool for diagnosing Menkes disease, especially in infants showing early symptoms. 

2) Copper Blood Tests – Copper blood tests measure the amount of copper circulating in the blood. In Menkes disease, serum copper levels are typically low. Copper blood tests are a simple and non-invasive way to raise suspicion of the condition. Usually low in Menkes disease patients (0-55 µg/dL compared to the normal range of 70-150 µg/dL). Once diagnosed, copper blood tests are used to monitor the effectiveness of treatment and adjust copper levels as needed.

Imaging Tests –

In the event of Menkes's illness, hair characteristics seen under light microscopy are frequently quite distinctive. Every hair does not exhibit conventional morphological traits; thus, it is important to examine as many strands as possible.


A key factor in making the Menkes disorder diagnosis is neuroimaging. On an Menkes disease brain MRI, cerebral atrophy and delayed myelination are the most often seen abnormalities. Leukoencephalopathy, intracranial vascular tortuosity, hematoma and hygroma, subdural effusion, and alterations in basal ganglia signal are further characteristics.

Particularly before the age of 10 months, focal tumefactive white matter lesions on MRI are seen. Restricted diffusion and hyperintense drop-shaped lesions have also been found in the centrum semiovale. A cerebral embolism caused by artery-to-artery embolism or thrombotic occlusion is result in irregular and turbulent blood flow within a convoluted blood channel. In addition to the previously mentioned results, widespread vascular tortuosity strongly suggests Menkes. The MRA shows these vascular alterations more clearly than the standard MRI does.


As the illness progresses, Menkes' EEG exhibits three distinct phases. While interictal EEG displays multifocal polymorphic waves, ictal observations in the early stage include sluggish spike waves and slowing in the posterior area. Multifocal hypsarrhythmia with diffuse irregular slow and spike waves is evident in the middle stage. Mixed irregular slow waves and multifocal high-amplitude activity are characteristics of the late stage.

X-ray -

X-ray results show spurs in long bones, metaphyseal flaring, and widespread osteoporosis. There are thickenings and periosteal diaphyseal responses. Many times, rib fractures are mistaken as child abuse. When there is no retinal haemorrhage seen in a newborn with an unexplained subdural hematoma, Menkes disease should be ruled out as a differential Menkes disease diagnosis X-ray.

Molecular Genetic Testing -

Single-gene testing and multigene panels are two types of molecular genetic testing. If no harmful variation is discovered, the sequential study entails analysing Menkes disease ATP7A gene and then gene-targeted deletion/duplication analysis. The clinician is restricting the discovery of variations of dubious relevance and variants that do not explain the underlying phenotype while customizing multigene panels, including ATP7A and additional genes of interest, such as FBLN5-related cutis Laxa and ELN-related cutis Laxa.

Prenatal Diagnosis -

Prenatal diagnosis and genetic counselling are highly beneficial in avoiding Menkes's illness. New mutations, however, are the underlying pathology in one-third of all instances of Menkes disease. Prenatal diagnosis and screening are governed by defined criteria.

Menkes disease prevention is greatly aided by genetic counselling and prenatal diagnosis. Nonetheless, novel mutations represent the underlying pathophysiology in one-third of all Menkes disease patients. Diagnostic and screening protocols for pregnancy are well-established.

Physical and occupational therapy techniques –

Menke's disease has a serious impact on families, and psychological assistance is frequently beneficial and essential. Within the first few months of life, families of Menkes patients must bear the agony of watching their loved one descend from seemingly perfect health to an irreversible, crippling sickness. As a result, a comprehensive management strategy must include psychological assistance.

Diagnostic Market Players-

The below table provides names of the market competitors who are transforming healthcare with advanced diagnostic breakthroughs, are listed below-

Diagnostic Market Players

Imaging Tests

Blood Tests

Genetic Tests

Siemens Healthineers

Fortress Biotech, Inc.

Asper Biogene

General Electric (GE) Healthcare

Sentynl Therapeutics, Inc.

Blueprint Genetics Oy.

Philips Healthcare

Cyprium Therapeutics

Golden Helix, Inc.

Hitachi Healthcare

VectorBuilder Inc.

CeGaT GmbH

SiCare Medical

Laboratory Corporation of America®

Myriad Genetics, Inc.


Diagnostic Product-

Diagnostic Product

Imaging Tests

Blood Tests

Genetic Tests

Vantage Galan 3T, Vantage Titan 1.5T



Echelon Oval, Echelon Smart






OnSight 3D Extremity System

VB UltraStable™

Prenatal ExomeXtra®

Trillium Oval, Trillium II




Treatment Analysis -

According to DLI analysis, Menkes disease is a fatal disease with death usually occurring between 6 months to 3 years. The severity of the ATP7A gene deletion and the amount of remaining functional ATP7A protein determines the course of treatment. When designing a treatment plan for patients with Menkes disease, providers should consider three basic principles:

o  Avoid the obstruction in the copper's enteral absorption

o  Enzymes within cells that require copper as a cofactor ought to have access to it.

o  Identifying infants with Menkes disease and starting therapy early in life are necessary to prevent irreversible neurodegeneration.

While there's no complete cure for Menkes disease, early and aggressive treatment with copper supplementation significantly improves the prognosis and quality of life for affected individuals. The key here is early intervention, ideally within the first 28 days of birth.

  • Copper Supplementation -

This is the cornerstone of Menkes disease treatment, as the disease originates from a copper deficiency disorder.

  • Copper histidine (CuHis) - This is the preferred form of copper supplementation for Menkes disease. It's administered through daily subcutaneous injections, and it effectively raises copper levels in the blood and brain.
  • Efficacy - Early treatment with CuHis significantly improves survival rates, reduces neurological symptoms, and promotes growth and development. However, the effectiveness varies depending on the severity of the ATP7A gene mutation and the individual's response to treatment.
  • Additional Supportive Measures -

Dietary modifications:

A low-copper diet is recommended to prevent excessive copper buildup from food sources, particularly in individuals with less severe Menkes disease variants. Dietary modifications for Menkes disease are not a substitute for proper medical treatment. The primary treatment for Menkes disease involves copper supplementation, typically administered through injections or a nasogastric tube. Any dietary changes should be made in consultation with a doctor or registered dietitian specializing in metabolic disorders.

  • Copper supplementation: The cornerstone of Menkes disease management is oral or parenteral copper supplementation, usually copper histidine. The specific type and dosage are going to be determined by the doctor based on individual needs and responses.
  • Food sources: Although taking supplements is important, including more foods high in copper in the diet is helpful too. Seafood, nuts and seeds, whole grains, fruits, vegetables, organ meats, phytates, zinc, and fibre are a few examples.

Physical therapy:

Physical therapy frequently plays a crucial role in managing the symptoms and improving the quality of life for individuals with this rare genetic condition.

Physical therapy is beneficial in the following ways:

  • Improved muscle tone and strength: Due to low copper levels, individuals with Menkes disease often have hypotonia (low muscle tone) and weakness. Physical therapists design exercises to strengthen muscles, improve motor skills, and increase functional independence. This is useful for walking, sitting, standing, and feeding.
  • Enhance motor skills development: Menkes disease has the potential to have an impact on motor development, delaying the development of milestones like as walking, crawling, and grasping. Physical therapists are providing specific exercises and interventions to help children with Menkes disease develop these skills and reach their full potential.
  • Promote joint flexibility and range of motion: Contractures (stiffness) in joints are common in Menkes disease. Physical therapists are improving joint mobility and stop more contractures by using methods including stretching, massage, and splinting. This might simplify daily tasks and lessen discomfort.
  • Address respiratory issues: In Menkes disease, weak respiratory muscles might be problematic. Breathing exercises and approaches to enhance lung function and avoid respiratory issues are frequently taught by physical therapists.
  • Promote sensory integration: Sensory processing difficulties are often seen in individuals with Menkes disease. Physical therapists are use sensory-based activities to help them integrate sensory information and improve their engagement with the environment.
  • Provide support and education: Physical therapists are able to work closely with families and caregivers to provide support, education, and guidance on managing Menkes disease at home. Information on handling methods, safe placement, and adaptable equipment might all fall under this category.

Occupational therapy:

Occupational therapy is used to play a vital role in helping individuals with Menkes disease manage their symptoms and improve their quality of life. Occupational therapists work with individuals to develop skills that they need to perform activities of daily living (ADLs).

Specific OT interventions for Menkes disease include:

  • Sensory integration therapy
  • Neurodevelopmental therapy
  • Assistive technology
  • Adaptive equipment
  • Education and training

Speech therapy:

This is to be beneficial for children with speech and language difficulties.

Emerging Therapies:

  • Gene therapy: Menkes disease gene therapy is a promising area of research that aims to correct the underlying genetic defect. However, it's still in the early stages of development and not yet available as a standard treatment.
  • Stem cell therapy: Menkes disease stem cell therapy is another potential approach promising for treating Menkes disease. However, further research is needed before it is widely used.

DiseaseLandscape Insights provides extensive research on the treatment domain of Menkes disease to keep the stakeholders one step ahead in the market. DLI equips the knowledge about treatment options, novel drugs and techniques, products, and service contributions. DLI also offers extensive research on the competitors who are in the treatment domain and developing new treatment options for better health of patients.

Treatment Market Players-

Treatment Market Players


Engrail Therapeutics


Cyprium Therapeutics


Sentynl Therapeutics, Inc.


Fortress Biotech



Penicillamine (Cuprimine)


Droxidopa (Northera)


Copper 0.4 mg/ml Copper Supplement Injection

Pharmavlte LLC

Nature Made Copper

Solgar, Inc.

Solgar Chelated Copper

Now Foods

Now Copper

Thorne Research, Inc

Copper Bisglycinate

Bluebonnet Nutrition Corporation

Bluebonnet Copper Amino Acid Chelate


Regulatory Framework -

DiseaseLandscape Insights organizes international regulatory standards for Menkes disease. DLI provides empirical data on regulatory compliance, risk assessment, and monitoring. By investigating the DiseaseLandscape Insights services, organizations and market players are avoid, manage, and respond to lymphoma flare-ups and safeguard the well-being of afflicted individuals.

However, the Food and Drug Administration (FDA) regulates the approval and marketing of diagnostic tests and treatments for Menkes disease. This includes ensuring the safety and efficacy of Menkes disease genetic testing kits, copper supplements, and other potential therapies.

In December 2022, the U.S. Food and Drug Administration (FDA) approved copper histidine (CUTX-101) for the treatment of Menkes disease. CUTX-101 is the first FDA-approved drug specifically for Menkes disease and is expected to improve the lives of many patients. 

Research studies involving human subjects, including clinical trials for new Menkes disease treatments, require approval from an Institutional Review Board (IRB) to ensure ethical conduct and participant safety.

Regulations like HIPAA (Health Insurance Portability and Accountability Act) in the US and GDPR (General Data Protection Regulation) in Europe protect the privacy of individuals participating in research related to Menkes disease.

Overall, regulatory rules have a considerable influence on the Menkes disease sector, and DLI offers an in-depth evaluation of several regional standards that are now in place, as well as prospective Menkes disease future changes in the Menkes disease market.

Competitive Analysis -

Competitive analysis involves assessing the strengths and weaknesses of competitors in a particular market or industry. When applied to a medical condition like Menkes disease, which is a rare genetic disorder, the focus shifts to understanding the landscape of Menkes disease research, treatment options, and support services

In 2021, Cadila Healthcare announced that its US subsidiary acquired an experimental drug from Cyprium to treat Menkes disease.

In 2020, Cyprium Therapeutics Inc. launched CUTX-101, a subcutaneous injectable formulation of copper histidine, which helps to restore copper hemostasis and maintain serum copper levels assessment at an appropriate range.

Among the important local and international players included in the Menkes syndrome market study are Fortress Biotech, Teva Pharmaceutical Industries Ltd., Amerigen Pharmaceuticals Limited, Mylan N.V., Bausch Health, and H. Lundbeck A/S. Separate market share data is provided for the following regions: North America, Europe, Asia-Pacific (APAC), Middle East and Africa (MEA), and South America. Competitor strengths are recognized by DBMR analysts, who offer competitive analysis specific to each rival.

Market Trends -

Menkes Disease market is small but growing rapidly. The increasing awareness, improved diagnosis and treatment, and emerging trends like gene therapy and precision medicine are expected to drive market growth in the coming years. However, challenges such as high cost of treatment and limited access to healthcare remain to be addressed.

Increasing awareness: Rising awareness of Menkes Disease, both among healthcare professionals and the public, is leading to earlier diagnosis and treatment, which boosts the market.

Improved diagnosis and treatment: Advancements in diagnostic tools and treatment options, such as gene therapy, are creating new opportunities for market growth.

Government initiatives: Several governments and NGOs are actively involved in raising awareness and supporting research for Menkes Disease, further contributing to market growth.

Emerging Trends-

Gene therapy: Gene therapy is a promising new approach for treating Menkes Disease. Several clinical trials are underway to evaluate the safety and efficacy of gene therapy for this condition.

Precision medicine: With advancements in genetic testing, personalized treatment options are becoming more feasible for Menkes Disease patients. This leads to improved outcomes and reduced Menkes disease long term side effects.

Digital health: Telemedicine and other digital health technologies are playing an increasingly important role in managing Menkes Disease. Patients might benefit from improved assistance and easier access to care as a result.

Market trends in brain cancer underscore the importance of these advancements that hold the potential to improve patient outcomes and quality of life. Meanwhile, developments in early detection methods, including liquid biopsies and advanced neuroimaging, are offering hope for identifying brain tumors at their earliest stages, ultimately leading to more effective treatments and better prognoses for patients.

DiseaseLandscape Insights helps the industry player in the brain cancer disease market by providing intense knowledge about all the existing market players, their innovations, strategies, and collaborations and helps select the correct marketplace to grow exponentially.

Clinical Trial Assessment -

To educate medical professionals and researchers about Menkes disease and associated conditions, think about taking part in a clinical study. Utilizing human subjects in Menkes disease clinical trial research allows scientists to get greater insight into a condition and it is developing safer methods for illness detection, treatment, or prevention.

Phase 1

Phase 2

Phase I/II Study of NORTHERA (DROXIDOPA) for Dysautonomia in Adult Survivors of Menkes Disease and Adults with Occipital Horn Syndrome: Double-blind Placebo-controlled Randomized Crossover Clinical Trial

Phase I/II Study of NORTHERA (DROXIDOPA) for Dysautonomia in Adult Survivors of Menkes Disease and Adults with Occipital Horn Syndrome: Double-blind Placebo-controlled Randomized Crossover Clinical Trial


Conclusion -

DiseaseLandscape Insights (DLI) assists manufacturers in developing and implementing viable remedies to interrupt and manage Menkes Disease outbreaks. Furthermore, there is an increasing need for diagnostic tools, clinical evaluations, and innovative therapies because of greater awareness and estimated epidemics.

DiseaseLandscape Insights offers essential knowledge and expertise to major stakeholders involved in the manufacture of therapeutic goods. DiseaseLandscape Insights' support makes it easier for market participants to organize and carry out clinical trials for innovative medicines and pharmaceuticals, patient recruiting tactics, and regulatory compliance.

Ultimately, this encourages the leaders to perform qualitative research, explore the manufacturing organizations, and learn about raw material suppliers. DLI services assist all industry players to stay one step ahead and obtain a stronger foothold in Menkes disease.

Vishal SawantBusiness Development

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