What else is it called?
- Kinky hair disease
- Kinky hair syndrome
- Menkes syndrome
- Steely hair disease
- Steely hair syndrome
- X-linked copper deficiency
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What causes it?
This disorder is caused by a problem in the ATP7A gene. This gene produces the ATPase enzyme, which regulates copper levels in your body.
This process is needed to transport copper around your body which powers the enzymes that control the development of your hair, brain, liver, and arteries.
If you have a problem in your ATP7A gene, you will not produce enough of the ATPase enzyme. Therefore, you will be unable to develop properly as an infant and this causes delays in learning and growth.
How common is it?
Menkes Disease can be seen in anything from 1 in 100,000 to 1 in 250,000 births. The disease is most commonly diagnosed in males.
Females are typically only carriers of the disease and don’t usually show any symptoms. This is because it is carried on the X chromosome and females always have two X chromosomes, so the second can provide the ATP7A gene.
What are the signs and symptoms?
Signs of the disease can be recognised in the first few months of your child’s life, typically around 2 months old. The most characteristic sign is hair that is brittle, sparse, kinky, sometimes like steel wool. It is often dull in colour, or described as white, ivory, or grey. Your baby may also have pudgy cheeks, a prominent forehead and unusually shaped eyebrows.
Common symptoms include:
- Lower than average body temperature (hypothermia)
- A yellow appearance (jaundice)
- Not hitting their milestones (severe developmental delays) or struggling to do things that they once could
- Fits (convulsions)
- Difficulty feeding
- Spontaneous bone fractures
- Low blood sugar levels (hypoglycaemia)
- Vomiting and diarrhoea
Symptoms can sometimes look like they are improving, with normal development continuing for 2 or 3 months. However, this is usually followed by the reappearance of symptoms.
Life expectancy is short and most children do not live beyond early childhood.
How is it diagnosed?
Menkes disease can be diagnosed in your child by measuring the amount of copper and a certain protein enzyme (ceruloplasmin) in their blood, however this is not always accurate.
Molecular genetic tests are used to confirm the diagnosis. Your medical professional will tell you more about this test, but it usually means taking a sample of blood, saliva, or other tissue such as hair in order to look closely at your baby’s genes.
Menkes disease is not currently part of the typical newborn screening process in the UK, or in most other countries. Families considered to be at risk of Menkes disease may be offered a blood test soon after their baby is born. This is used to identify low levels of copper and other chemicals related to the disease to detect it before symptoms begin to show. This means that your child has a better chance of receiving successful treatment.
Sometimes, Menkes disease is diagnosed as another genetic disorder like Ehlers-Danlos syndrome, Marfan syndrome, cutis laxa, mitochondrial disorders, and osteogenesis imperfecta. Due to the symptoms of a child with Menkes disease, it can also appear to be the result of child abuse.
Females who are carriers of Menkes disease may not show any symptoms, but they may pass it on to their future children.
Can it be treated?
Treatment in the early stages after diagnosis is very important and the sooner your child gets treatment, the more effective it is likely to be. Treatment includes copper replacement injections (also known as a copper histidine compound) to increase the development of copper in your child’s body. The effectiveness of this treatment will depend on whether your child’s ATP7A enzyme still works. The injections will boost the enzyme’s production of copper but it cannot replace it completely.
Your medical team may recommend physical therapy to improve your child’s muscle development, and occupational therapy to support their learning needs.
You may also be put in touch with a nutritionist or dietician to talk about your child’s diet. Your child may need a feeding tube to ensure they get all the nutrients they need to thrive.
It is possible that your child will need medication or surgery at some point to remove any blockages in their bladder that can be caused by a build-up of copper.
Treatment for Menkes disease only helps to improve your child’s symptoms and keep them feeling comfortable. There is currently no cure.
Prognosis is poor and most children with the disease don’t live beyond early childhood. Some tests have shown that early treatment with copper injections can sometimes increase life expectancy to 13 years old.
Do my family need to be tested?
Menkes disease is carried on the X chromosome. Every person has two chromosomes – one from your mother and one from your father – that determine our DNA. Everybody receives an X chromosome from their mother. Males receive a Y chromosome from their father and females receive an X chromosome. This is what determines our sex.
Because males only have one X chromosome, if the ATP7A gene is faulty, there is no ‘back-up’ from their Y chromosome. This means that they will have Menkes disease. However, girls with the faulty ATP7A gene will have an extra, working gene from their father that will override the faulty gene.
Females with the faulty gene are carriers, and have a 50% chance of passing the gene on to their children. If you have a history of Menkes disease in your family, it is possible to get tested for the faulty ATP7A gene.
In rare cases, Menkes disease may be caused by a mutation in the ATP7A gene and not by inheriting it from the mother.