Menkes Disease Symptoms, Treatment, Causes, And Syndrome

Menkes disease (MD) is a hereditary, X-linked recessive condition that has an impact on numerous bodily systems. Infants with the condition are frequently born early and may exhibit general symptoms like hypothermia, hypoglycemia, and persistent jaundice. 

The development of "steely" or "kinky" hair, which typically occurs by the age of a few months, is one evident and distinct physical indicator. Seizures, stunted growth, undernutrition, erratic body temperature, and intellectual incapacity are other symptoms of Menkes's illness.

Mutations in the ATP7A gene, which is in charge of carrying copper throughout the body, result in Menkes disease. The body employs copper as a cofactor to activate specific enzymes that are necessary for the performance of specific tasks.

The copper-dependent enzymes that regulate the growth of hair, the brain, the bones, the liver, and the arteries can have catastrophic and even fatal consequences when they are not functioning regularly. Occipital horn syndrome and mild Menkes disease are two variations of MD that are caused by ATP7A gene mutations but have less severe symptoms.

“Menkes disease currently has no effective treatment, but if treatment with parenteral copper histidine (CuHis) is started early, within about 28 days of birth, it can improve survival and decrease neurological symptoms.

Causes Of Menkes Disease

Menkes disease is a hereditary condition. A newborn is born with it. A defective gene that was passed down to them by their biological mother affects roughly 2 out of 3 patients with Menkes disease. The other one in three cases is caused by fresh mutations (changes) in their ATP7A gene.

Your body's capacity to produce a protein that regulates the levels of copper in your body is impacted by the Menkes disease gene, known as ATP7A. Your body cannot transport copper properly if your ATP7A gene is dysfunctional.

People who are assigned male at birth (AMAB) are far more likely to inherit the gene than people who are designated female at birth (AFAB). An X-linked genetic condition is Menkes syndrome. That indicates that the gene is linked to the X chromosome.

People with AMAB only have one X chromosome, hence Menkes disease can be inherited through a single defective gene. Due to the presence of two X chromosomes in AFAB individuals, the condition requires the inheritance of two defective genes.

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Symptoms Of Memkes Disease

Premature birth is a possibility in babies with Menkes illness. They normally appear healthy at birth.

At around 2 to 3 months of age, the first signs begin to show up and may include:

• Light-colored, white, grey, or kinky hair that breaks readily.
• Low muscular tone (hypotonia).
• (Hypothermia) A low body temperature.
• facial characteristics that are sagging.
• Epilepsy, or seizures.
• Failure to thrive is characterized by slow growth and weight increase.
• Jaundice causes skin and eyes to appear yellow.
• Each individual experiences different symptoms. Rarely, symptoms may start to show up later in childhood or in the early stages of adulthood.

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Occipital Horn Syndrome

A less severe version of Menkes disease is called occipital horn syndrome (OHS). It has fewer drastic consequences. When a youngster is between the ages of 5 and 10, medical professionals typically diagnose it.

Along with milder Menkes disease symptoms, OHS may result in:

• Calcifications near the base of the skull are called occipital horns.
• Blood pressure and balance problems can be brought on by the nervous system disorder dysautonomia.
• Skin, and loose joints.
• Mild cognitive issues.

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Diagnosis Of Menkes Disease

Your child gets examined by your doctor to see if they have Menkes illness. They focus on hair that is brittle and crinkly. Symptoms and family history are other questions they ask. Your kid might have:

• Blood tests: A blood sample can be used to determine whether or not ceruloplasmin, a protein that transports copper, is present. The hormones known as catecholamines, which assist in controlling mood and muscle action, are also checked for by your healthcare professional.
• Your doctor will use a CT scan or X-ray to check your child's skull for tiny, twisted bones called "wormian bones." These bones are a result of copper deficiency-related issues with connective tissue.
• A little sample of your child's skin is removed during a skin biopsy by your healthcare provider. How successfully your child's body metabolizes copper can be determined by looking at their skin under a microscope.
• Ultrasound: This non-invasive test employs sound waves to examine the bladder. A typical Mendes syndrome consequence is bladder outpouches (diverticula).
• Your healthcare practitioner will perform a urine test to look for an increase in the acids (HVA/VMA) present in the urine. Depending on how active a copper-dependent enzyme is, these acids change.

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Treatment Of Menkes Disease

To be most successful, treatment must begin within 25 to 28 days following the baby's birth. The effectiveness of treatment is influenced by how severe the ATP7A gene mutation is.

Children with Menkes disease may get subcutaneous (under the skin) injections of copper histidine, a copper substitute. The purpose of this therapy is to raise the blood's copper levels. Additionally, it can minimize seizures, slow down nervous system deterioration, and extend your child's life.

Healthcare professionals concentrate on treating the disorder's symptoms while waiting for additional Menkes disease remedies to become available. Your medical staff may:

• Prescribe drugs to prevent or lessen seizures.
• To help your child in better food absorption, insert a feeding tube (enteral nutrition).
• suggest physical therapy or
• Analgesics

What Complications Could Result From Menkes Syndrome?

Menkes syndrome is a neurological disease. It worsens brain and cognitive (thinking) problems with time. Both children and adults may get Menkes's illness.

• One type of problem with brain bleeding is subdural hematomas.
• Diverticulosis: Growths that resemble pouches in the bladder or walls of the digestive tube.
• overpopulation of microscopic bones (wormian bones) in their skull.
• lack of coordinated movement-enabling motor abilities.
• Osteoporosis, or reduced bone density, can cause bone fractures.
• Twisted blood vessels are the cause of arterial tortuosity syndrome.

If children have broken bones and brain hemorrhages, medical experts may be concerned about possible child abuse. If your child displays these symptoms while living in a secure setting, talk to your healthcare provider about receiving help.

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