Unlocking the Mystery of Menkes Disease: A Guide to Understanding, Diagnosing, and Genetic Testing

Expert Reviewed By: ⁠Dr. Brandon Colby MD

Menkes disease is a rare, inherited neurodegenerative disorder caused by defective copper absorption. The condition can lead to severe developmental delays, seizures, and other health complications. Early diagnosis and intervention are crucial for improving the quality of life for those affected by this disease. In this article, we will delve into the world of Menkes disease, exploring its causes, symptoms, diagnosis, and the role of genetic testing in managing the condition.

Understanding Menkes Disease

Menkes disease is an X-linked recessive disorder, which means that it primarily affects males. The disease is caused by mutations in the ATP7A gene, which is responsible for regulating the absorption, distribution, and excretion of copper in the body. Copper is an essential trace element required for the proper functioning of various enzymes and proteins. In individuals with Menkes disease, the inability to properly absorb and distribute copper leads to a deficiency in the brain and other organs, resulting in a wide range of symptoms and complications.[1]

Recognizing the Symptoms of Menkes Disease

Infants with Menkes disease often appear healthy at birth but start showing signs of the disorder within the first few months of life. Some of the most common symptoms include:

• Failure to thrive (poor growth and weight gain)
• Developmental delays
• Seizures
• Weak muscle tone (hypotonia)
• Brittle, kinky hair that is easily plucked (also known as “steely hair” or “pili torti”)
• Sagging facial features
• Repeated infections

In some cases, individuals may present with a milder form of the disease, which can be more challenging to diagnose due to its less severe symptoms.[3]

Diagnosing Menkes Disease

Diagnosing Menkes disease typically involves a combination of clinical examination, laboratory tests, and genetic testing. A thorough physical examination may reveal characteristic features such as steely hair and sagging facial features. Blood tests can help determine the levels of ceruloplasmin and copper in the plasma, which are often low in individuals with Menkes disease.[3]

The Role of Genetic Testing in Menkes Disease

Genetic testing plays a critical role in confirming a diagnosis of Menkes disease, as it can identify mutations in the ATP7A gene. This is particularly important in cases where the clinical presentation is not typical or when the disease is suspected in a female carrier. Genetic testing can also be used for prenatal diagnosis, carrier testing, and preimplantation genetic diagnosis (PGD) in assisted reproductive technology (ART).[4]

Improving Genetic Screening Procedures in Assisted Reproductive Technology

As genetic testing becomes more widely available, there is a growing need for improved screening procedures and ethical considerations in ART diagnostics. A recent case highlighted the importance of thorough genetic screening in egg donors, as two boys born to a couple using an egg donor were affected by Menkes disease after the donor was found to be a carrier of the condition. This case underscores the importance of comprehensive genetic screening in ART to minimize the risk of passing on genetic disorders.[4]

Treatment and Management of Menkes Disease

Currently, there is no cure for Menkes disease, but early intervention and treatment can help manage symptoms and improve the quality of life for affected individuals. Treatment typically involves parenteral administration of copper, which can help increase copper levels in the body and may improve neurological outcomes if initiated early in the disease course.[1] Ongoing research is focused on finding alternative therapies and potential cures for this devastating disorder.

In conclusion, Menkes disease is a rare and complex neurodegenerative disorder that requires early diagnosis and intervention. Genetic testing plays a vital role in diagnosing the condition, as well as in prenatal diagnosis and assisted reproductive technology. By increasing awareness and understanding of Menkes disease, we can help improve the lives of those affected and work towards finding more effective treatments and, ultimately, a cure.

About The Expert Reviewer

Dr. Brandon Colby MD is a US physician specializing in the personalized prevention of disease through the use of genomic technologies. He’s an expert in genetic testing, genetic analysis, and precision medicine. Dr. Colby is also the Founder of  and the author of ⁠⁠Outsmart Your Genes.

Dr. Colby holds an MD from the Mount Sinai School of Medicine, an MBA from Stanford University’s Graduate School of Business, and a degree in Genetics with Honors from the University of Michigan. He is an Affiliate Specialist of the American College of Medical Genetics and Genomics (⁠⁠ACMG), an Associate of the American College of Preventive Medicine (⁠⁠ACPM), and a member of the National Society of Genetic Counselors (⁠NSGC)