This is a genetic disorder that affects the body’s ability to process copper. It is called Menkes disease, and it often causes the following symptoms. For example, seizures, slow growth, floppy muscles, and kinky (crinkly) hair. Unfortunately, it is not possible to cure this condition. That’s why the treatment goal is to reduce the symptoms, prevent serious complications, and improve your quality of life. Doctors often recommend treatments with copper that help ease the symptoms and prolong your life.
Furthermore, Menkes disease is a genetic disorder that negatively affects the way your body uses copper. It often affects the nervous system (including the brain and nerves), bones, hair, skin, and blood vessels. Without treatment, this condition may cause damage to the child’s nervous system. Usually, this condition affects the children’s growth and development. Sometimes, this condition is called kinky hair disease because one of the most common symptoms is crinkly hair.
According to some research, Menkes disease affects about 1 in every 100,000 to 250,000 people in the world. However, a 2020 study that uses the Genome Aggregation Database predicts a higher risk of this genetic condition. For instance, it suggests that about 1 of 8,664 male births in the U.S., or 225 babies each year, will develop this condition.
Symptoms
Some babies with Menkes disease are born prematurely (too early). However, most babies seem healthy at birth, but they may experience symptoms within 3 months after birth. Check some examples below:
- Kinky hair that is light-colored, white, or gray and breaks easily
- Hypotonia (low muscle tone)
- Hypothermia (low body temperature)
- Saggy facial features
- Seizures caused by epilepsy
- Failure to thrive (slow growth and poor weight gain)
- Jaundice (yellowing of the skin and eyes)
Usually, the symptoms are different among people who develop this condition. In any case, if you or your child has any of the previous symptoms, immediately contact your healthcare provider. Otherwise, it may lead to serious complications.
Causes and Risk Factors
This serious condition occurs due to a genetic mutation. For example, approximately 2 in 3 people with this disorder have an inherited faulty gene that passes from the biological mother to their children, and 1 in 3 cases are caused by a new mutation (change) in the ATP7A gene. Normally, this gene produces a protein that controls the amount of copper in the body. However, in people with Menkes disease, it does not work properly, which affects the body’s ability to transport copper properly.
Generally, males are more prone to inherit this abnormal gene because this disorder is an X-linked genetic disorder. The males have only one X chromosome, and they need only one abnormal gene to develop the condition. However, females have 2 X chromosomes, and to inherit this condition, they will need 2 abnormal genes.
Physicians have identified some factors that could elevate your risk of developing Menkes disease. Check some of them below:
- Family history – If you have a parent or sibling with this condition, your risk of developing it significantly increases.
- Gender – Males are more prone to Menkes disease because they have only one X-chromosome.
- New gene mutations – Approximately 30% of all diagnosed cases occur due to new genetic mutations. It means these people do not have a family history of the disease.
What Happens if Menkes Disease is Left Untreated?
Furthermore, this condition is a neurodegenerative disorder that may cause brain and cognitive problems that usually worsen over time. Check below some complications of Menkes disease:
- Excessively small bones in the skull
- Brain bleeding (such as subdural hematomas)
- Bulging pouches in bladder or digestive tract walls (diverticulosis)
- Loss of motor skills
- Osteoporosis (brittle bones) that increases the risk of bone fractures
- Arterial tortuosity syndrome (twisted blood vessels)
- Eye problems – For example, optic atrophy, cataracts, and others.
- Infections (such as pneumonia)
- Intellectual disability
- Chest deformities (such as pectus excavatum/carinatum)
The previous list does not contain all possible complications of Menkes disease. However, you can talk with your physician about measures to reduce the risk or even prevent them. In addition, there is no way to prevent this condition. However, you can perform genetic tests to make sure you do not carry the abnormal gene that causes it. It is very important to understand the risks of having children with Menkes disease.
Diagnosis
Doctors will begin the diagnosis of Menkes disease with a physical and neurological examination to check for irregularities linked to this disorder. However, to confirm or exclude this condition, doctors often perform the following tests and procedures. For example:
- Blood tests – These tests are often done to confirm low copper levels. Doctors may also check for low hormones (catecholamines) that are used to regulate muscle movement and emotions.
- Urine tests (also known as urinalysis) – Doctors will perform a urine test to check for an increase in acids (HVA/VMA) in the urine. These acids often depend on the activity levels of copper-dependent enzymes.
- Imaging tests – Healthcare professionals usually perform the following tests to get detailed images of different structures and organs inside the body. They often help identify complications caused by a copper deficiency (such as twisted bones, connective tissue disease, and others). These include CT (computerized tomography) scans, ultrasounds, and MRI (magnetic resonance imaging) scans.
- Skin biopsy – During this test, physicians will remove a sample of skin for testing. They often check how well your body processes copper.
Moreover, researchers continue to investigate new ways to identify Menkes disease in the early stage (including genetic tests for mutations in the ATP7A gene).
Treatment
In general, it is recommended to begin the treatment within 25 days of birth because it is most effective in this period. The response to treatment often depends on the severity of the ATP7A gene mutation and how it affects the body’s ability to process copper.
Physicians may also recommend subcutaneous injections of a copper replacement (copper histidine). Usually, it helps children with Menkes disease increase the copper in their blood. These injections may also help relieve the symptoms and prevent serious complications. Your doctor may also recommend some options to manage the symptoms until Menkes disease treatment is available. These include:
- Anti-seizure medications
- Enteral nutrition – It involves a feeding tube that helps children better absorb nutrients.
- Physical and occupational therapy
- Prescription pain relievers
Frequently Asked Questions
What is occipital horn syndrome?
This condition is a mild form of Menkes disease that causes less severe symptoms. Usually, it occurs in children between the ages of 5 and 10. It may also cause occipital horns (calcium deposits at the base of the skull), dysautonomia (nervous system problems that cause problems with blood pressure and balance), loose joints and skin, and mild neurological problems. For more details, discuss it with your physician.
What is the outlook for people with Menkes disease?
In most cases, children with this genetic disorder live for 2-3 years after diagnosis, especially if they do not get immediate treatment. However, even with treatment, this is a progressive disorder, which means it worsens over time. Males who get treatment often live up to 10 years.
Can Menkes disease be cured?
Unfortunately, there is no way to cure this condition. Recently, the FDA (Food and Drug Administration) has approved a medicine (Zycubo) that offers hope for improving outcomes, especially if it is administered very early in infancy. If you have additional questions, ask your healthcare provider.
