Menkes disease

Alternate names

Menkes syndrome; Steely hair disease; Menkea syndrome; Kinky hair disease; Copper transport disease

Definition

Menkes disease (MD) is an inherited condition that impacts the way the body processes copper levels in the body. MD primarily affects the nervous system and connective tissue with symptoms that tend to get worse over time.

Epidemiology

It is thought that approximately 1/100,000 – 1/300,000 babies are born with Menkes disease in most parts of the world. This incidence may be higher in Australia.

Cause

• Menkes disease is caused by genetic alterations in the ATP7A gene.
• This gene provides instructions for making a protein that is important for maintaining copper levels in the body.
• Copper is necessary for many cellular functions, but it is toxic when present in excessive amounts.

Gene mutations

• Mutations in the ATP7A gene leads to poor distribution of copper to the body's cells.
• Copper get accumulated in some tissues, such as the small intestine and kidneys, while the brain and other tissues have unusually low levels of copper. The decreased supply of copper can reduce the activity of numerous copper-containing enzymes that are necessary for the structure and function of bone, skin, hair, blood vessels, and the nervous system.

Inheritance

X-linked recessive inheritance

• Menkes disease is inherited in an X-linked recessive pattern and mainly affects boys.
• X-linked means that the gene for the condition is located on the X-chromosome, one of the sex chromosomes.
• In males (who have only one X chromosome), one altered copy of the gene is enough to cause the condition.
• In females (who have two X chromosomes), an alteration needs to occur in both copies of the gene to cause the condition.
• X-linked recessive conditions affect males much more frequently than females.
• Females, who have one altered gene, are called carriers.
• While most female carriers have no signs or symptoms of the condition, in rare cases, female carriers may experience some mild signs or symptoms.
• A female who carries one X-linked gene alteration has a 50% or 1 in 2 chance of having a son with the condition and a 50% chance of having a daughter who is also a carrier.
• A male with an X-linked recessive condition cannot pass on the disorder to his sons, but all of his daughters will be carriers.
• Sometimes a male child is the first person in a family with Menkes disease.
• In this case, the gene alteration may have been inherited from the mother, or the alteration may have occurred by chance for the first time in the child (de novo).

Signs and symptoms

Symptoms of Menkes disease (MD) begin shortly after birth and may vary from person to person. Early signs and symptoms may include:

• Progressive nervous system decline
• Seizures
• Kinky, light colored, easily breakable hair
• Low muscle tone (hypotonia)
• Twisted blood vessels (arterial tortuosities)
• Characteristic facial features
• Bladder sacs or pouches (diverticula)

A milder form of the disease, called the occipital horn syndrome or X-linked cutis laxa, is characterized by loose skin and joints, bony growths at the back of the skull, twisted blood vessels and bladder problems. Symptoms of occipital horn syndrome typically begin in childhood.

Diagnosis

• Menkes disease is typically diagnosed based on the clinical features, medical examination, and genetic testing for alterations in the ATP7A gene. Other types of tests that may be helpful include analysis of catecholamines (chemicals that are sensitive to copper) and copper levels in the blood.

Treatment

There is no specific treatment for Menkes disease (MD). Some boys with MD respond to early treatment (started in the first weeks of life) with copper complexes (mainly copper-histidine). This treatment may prevent or slow nervous system damage, decrease the number of seizures, and increase lifespan. Copper treatment does not work for all patients with MD. Other treatments are aimed at preventing and/or managing the symptoms and complications associated with this condition. These may include:

• Gastrostomy (feeding) tube insertion
• Bladder surgery
• Seizure medication

Some of the specialists who might be involved in the care of someone with Menkes disease include:

• Neurologist
• Gastroenterologist
• Developmental specialist
• Urologist
• Genetics professional

Prognosis

• The symptoms of Menkes disease (MD) usually appear within a few months after birth.
• These may include failure to grow and gain weight, low muscle tone, seizures and a loss of motor skills.
• These symptoms tend to get worse over time.
• Even with treatment, some boys with MD continue to decline.
• MD is considered a lethal condition and death may occur before age 10.
• Pneumonia, leading to respiratory failure, is a common cause of death, although some patients with MD die suddenly in the absence of any obvious medical problem.

NIH genetic and rare disease info

• NIH info on Menkes disease

Menkes disease is a rare disease.

Menkes disease Resources
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