Menkes syndrome is a rare genetic disorder that impairs the body’s ability to absorb and store copper. The disorder primarily affects infants, and it leads to serious complications and a shortened life span.
Menkes syndrome, or Menkes disease, is a rare genetic disorder that causes problems with copper metabolism in the body. Symptoms usually develop shortly after birth, and severe complications — like seizures — are common.
Most children with Menkes syndrome don’t survive past 3 years of age. However, certain medications may help manage symptoms and extend life span.
Children with a milder form of the disorder, called occipital horn syndrome, may live into adulthood.
One of the main characteristic symptoms of Menkes syndrome is the development of sparse and depigmented hair on the head. Because of this, some people used to call Menkes syndrome “kinky hair disease” or “steely hair disease.”
Read on to learn more about Menkes syndrome, including what causes it, how doctors treat it, and how to recognize it.
How common is Menkes syndrome?
Menkes syndrome is rare, and it occurs almost exclusively in males. In the United States, experts think that Menkes syndrome occurs in about
Most infants born with Menkes syndrome appear healthy for
- slow physical development
- seizures
- floppy muscle tone
- prolonged jaundice
- low body temperature (hypothermia)
- low blood sugar (hypoglycemia)
- feeding difficulties
- diarrhea
- vomiting
- pale skin
- frontal or occipital skull irregularities
- small lower jaw (micrognathia)
- pudgy cheeks
Some infants are born with bone fractures or cephalohematoma, which is an accumulation of blood under the scalp. These symptoms can mimic injuries related to child abuse.
After a couple of months, infants often develop sparse and dull hair on their scalp that tangles and breaks easily. Their hair is usually depigmented and can resemble steel wool. It may be:
- white
- ivory
- gray
Austrian-American doctor John Menkes first described Menkes syndrome in
People with Menkes syndrome have unusually low levels of copper in their brain and liver and too much in their intestines and kidneys.
Copper is an essential mineral that the human body needs to function properly, and a lack of copper causes many of the complications of Menkes syndrome. For example, having low copper levels reduces the activity of the enzyme cuproenzyme tyrosinase, which causes reduced pigmentation of your hair and skin.
Having low copper levels also reduces the activity of cuproenzyme lysine oxidase, which leads to weak inner blood vessel walls.
Genetics of Menkes syndrome
The genetic mutation that causes Menkes syndrome is recessive and occurs on the X chromosome. The disorder almost always occurs in males since females have a backup X chromosome, whereas males only have one.
Associated genetic mutations usually pass through families, but they can also develop sporadically without a family history.
Your doctor may suspect Menkes syndrome if there’s a family history of the disorder or if your child has characteristic features, such as brittle and sparse hair. It’s possible to detect Menkes syndrome before birth, but doctors usually diagnose it early in childhood.
Doctors typically diagnose occipital horn syndrome, a milder form of Menkes syndrome, in children around the ages of 5–10 years.
Blood tests can support your child’s diagnosis by revealing low levels of copper and ceruloplasmin. Genetic testing looking for an associated ATP7A gene mutation can confirm the diagnosis.
Other tests your child might get include:
Infants with Menkes syndrome are often born prematurely. Menkes syndrome usually causes complications that develop early in life and shorten a life span.
- urological and
kidney problems - seizures that don’t respond to medication
- subdural hematoma
- blindness
- recurrent infections
- respiratory infections
- slowed growth
- trouble with movement
Treatment for Menkes syndrome largely revolves around reducing symptoms. The outlook is often poor, and most children die between
Receiving injections of copper histidine through a vein or under the skin may improve the course of the disorder for some children. These injections improve the concentration of copper in the blood and help support the development of the nervous system. They may also reverse hair and skin symptoms.
Injections should ideally start within the first 28 days of your child’s life. Although not common, researchers have reported some children living into their teens with this therapy.
Some mutations in the ATP7A gene are linked to occipital horn syndrome, the
Anticonvulsant medications may help reduce seizures for some children. Other supportive treatments include:
- ear tubes for ear infections
- a feeding tube to help with feeding
- surgery for bladder problems
Other possible treatments for Menkes syndrome include:
Menkes syndrome is a rare genetic disorder that causes problems with the metabolism of copper. Children usually develop symptoms including seizures, poor growth, and wiry and depigmented hair shortly after birth.
Most children born with Menkes syndrome don’t survive until their third birthday.
Treatment focuses on minimizing a child’s symptoms and maximizing their quality of life. Starting regular injections of copper histidine within the first 4 weeks of life may help support their nervous system and extend their life span.