Menkes Disease
Overview
Menkes disease, also known as Menkes syndrome, is a genetic disorder caused by a mutation in the ATP7A gene. This mutation disrupts the body's ability to transport and regulate copper, leading to a range of challenges for those affected. Primarily found in male infants, this condition is characterized by kinky, coarse hair, which has led to its nickname of "kinky hair disease." Unfortunately, affected individuals face numerous difficulties in their growth and development. Menkes disease is estimated to occur in approximately 1 out of every 35,000 live male births.
Symptoms
List of issues that someone might be experiencing:
- Insufficient weight gain
- Inadequate growth or development
- Epileptic seizures
- Poor muscle development
- Difficulty in holding the head up
- Weak muscles (known as hypotonia)
- Sagging cheeks.
Causes & Risks
It happens when there's a problem with the ATP7A gene that messes up the way our body transports copper. This leads to a shortage of copper in important areas like the brain, where it's needed for various functions. And at the same time, there's an excess of copper in organs like the gut and kidneys, which can't handle it. It's a mess, really. The result is that we end up with a shortage of copper where it's needed the most, leading to all sorts of problems. And the extra copper in the wrong areas just makes things worse. So, it's really important to have a good balance of copper in our bodies for overall health and well-being.
Test & Diagnosis
The primary step in identifying Menkes disease is a comprehensive physical examination. This is essential to recognize signs like fine, twisted hair or inadequate growth. Healthcare professionals, especially pediatricians, may conduct blood tests or genetic screenings to accurately diagnose Menkes disease.
In newborns, a specific diagnostic evaluation called plasma catecholamine analysis is used to evaluate certain natural neurochemicals to aid in disorder identification. Genetic tests also reveal the ATP7A mutation that causes Menkes disease. Effective management requires teamwork and collaboration between specialized fields such as Biochemical and Molecular Genetics, Gastroenterology and Nutrition, and Neurology due to its rare occurrence and multi-systemic impact.
Treatment
So, did you know that Menkes disease can be treated with copper supplements? They're given through daily subcutaneous injections, but it's important to note that the effectiveness of the treatment may vary depending on the type of copper complex used and how severe the ATP7A mutation is.
Living With
Living with Menkes disease can be tough because it affects how copper is distributed in the body. It can cause things like twisted or fine hair, growth problems, and neurological issues. To treat it, people need copper supplements given through injections every day to balance the copper levels. But it's not always easy - the kind of copper used and how severe the ATP7A mutation is can affect how well the treatment works.
Coping with Menkes disease involves a bunch of different things, like seeing different doctors, getting support, and coming up with ways to deal with the symptoms and make life better for those who have it.
Complications
-Intractable seizures: Menkes disease can lead to persistent and uncontrollable seizures, posing significant challenges.
-Subdural hematoma: Individuals with Menkes disease may experience the accumulation of blood outside the brain, known as subdural hematoma, causing pressure on the brain.
-Blindness: Vision impairment or total blindness can occur due to the progression of the disease affecting ocular function.
-Recurrent infections: Menkes disease weakens the immune system, making individuals more susceptible to frequent and severe infections.
-Early mortality: In classical Menkes disease cases, mortality often occurs by the age of three, primarily due to vascular complications or respiratory infections, highlighting the severity and life-threatening nature of the condition.
