Menkes Disease

What is Menkes disease?

Menkes disease (MNK), also called Menkes syndrome, is a rare genetic disorder resulting in copper deficiency. This can result in severe symptoms such as growth problems and decline of the nervous system. 

Symptoms begin during infancy. Incidence is about 1 in 100,000 to 1 in 250,000 live births. The disease is named after John Hans Menkes, an Austrian-American pediatric neurologist. He described the disease for the first time in 1962. 

What causes Menkes disease?

Menkes disease is caused by a genetic mutation of the gene ATP7A, which codes for a protein of the same name responsible for transporting copper. 

This disorder is passed down in an X-linked recessive pattern, meaning that the mutation is carried on the X chromosome. Around 70% of cases are inherited, while the remaining 30% are the result of a new mutation. Like all X-linked disorders, males are more frequently affected. Females are more likely to be carriers.

What are the symptoms of Menkes disease?

The symptoms of Menkes disease begin early in life and typically progress over time. Affected individuals are often born prematurely, and after a relatively normal two to three first months of life, symptoms begin to become noticeable

Symptoms of Menkes disease include:

• Loss of developmental skills
• Developmental delays
• Poor muscle tone
• Failure to thrive
• Low body temperature
• Seizures
• Kinky, brittle hair that may lack color
• Osteoporosis
• Grey matter neurodegeneration

How is Menkes disease diagnosed?

Diagnosis begins with blood tests to measure copper and ceruloplasmin. This is typically followed by microscopic examination of the hair (for distinctive traits) and a skin biopsy. The skull and overall skeleton are also utilized in order to scan for abnormalities. Genetic testing of the mother may also be performed to confirm the presence of a mutation in ATP7A.

What are the available treatments for Menkes disease?

There’s no cure for Menkes disease and treatment options are very limited. Copper supplements early in life may have some benefit. Otherwise, management of Menkes disease is symptomatic and supportive, and may include:

• Anti-seizure medication
• Pain medication
• Physical and occupational therapy
• Feeding tube, when necessary

Overall, early treatment results in better outcomes.

Where can I find more information on Menkes disease?

• NIH
• NORD
• The Menkes Foundation