Detailed Information on Menkes Syndrome
Menkes syndrome is an inborn error of metabolism in which cells in the body cannot absorb enough copper. Copper added at oddly low levels in the liver and brain, but at elevated than normal levels in the kidney and intestinal lining. The disorder causes severe cerebral degeneration and arterial changes, resulting in death in infancy. The disease can often be diagnosed by looking at a victim’s hair, which appears to be both whitish and kinked when viewed under a microscope. There is often extensive neurodegeneration in the gray matter of the brain. Menkes’ disease is transmitted as an X-linked recessive trait.
A condition is considered X-linked if the transformed gene that causes the disorder is sited on the X chromosome, one of the two sex chromosomes. In males, one altered copy of the gene in each cell is enough to cause the condition. In females, a mutation must be present in both copies of the gene to cause the disorder. Males are affected by X-linked recessive disorders much more frequently than females. A number of other diseases, including type IX Ehlers-Danlos syndrome, may be the result of allelic mutations and it is hoped that research into these diseases may prove useful in fighting Menkes’ disease. About 1 in 300,000 individuals are affected.
About one-third of cases results from new mutations in the gene and occurs in people with no history of the disorder in their family. Menkes syndrome is characterized by thin and coarse hair, growth failure, and deterioration of the nervous system. Extra signs and symptoms comprise weak muscle tone, sagging facial features, seizures, mental retardation, and developmental delay. In rare cases, symptoms begin later in childhood and are less severe. Symptoms appear during infancy and are largely a result of abnormal intestinal copper absorption with secondary deficiency in copper-dependent mitochonrial enzymes.
Normal or faintly slowed development may proceed for 2 to 3 months, and then there will be severe developmental delay and a loss of premature developmental skills. Menkes syndrome affected children may be born prematurely, but appear healthy at birth and develop normally for 6 to 8 weeks. Treatment usually only helps when started very early in the course of the disease. Treatment with daily copper injections may improve the outcome in Menkes disease if it begins within days after birth. Other treatment is symptomatic and supportive. See a genetic counselor if you want to have children and you have a family history of Menkes syndrome.
genetic counselor
How to achieve better career decision
Don’t you just know when you’re at a point that’s just crying out for a decision? You begin to recognize it’s coming when you start getting cranky, tense and easily irritated. You know something’s gotta give soon, because you’re just not happy or comfortable with what you’re feeling. On the other end, some people experience a “stalling out” unable to move forward or backwards to where they last had good momentum.
What is common is the need to examine what is holding you back, i.e. fear and why it’s happening. This isn’t easy. That’s why there are so many books on facing your fears, dealing with fears, pushing through fears, etc. But in order to break through the block that’s holding you in place, you have to admit to yourself that there is a block or fear. You don’t have to tell the world, but just like the power of forgiveness, telling yourself will set you free. Here’s an example of what I mean…
A friend was on the verge of marrying a man she had been dating for two years. She was concerned that he wasn’t taking control of his career so that they could move to another part of the country, where they would be surrounded by friends and family. So she talked with me over many lunches about “how” she could get him to talk to his boss about moving. Since she was a friend, I was gentle – at first.
After listening to her concerns and challenging her to talk with him and listen to what his real desires were, I realized she was blocked with her own “stuff”. So, I shifted the discussion to focus on her and what she was afraid of and why. Of course, her response was she wasn’t afraid of anything they had talked about moving, but he wasn’t willing to do anything about it. I coached her to recognize where the truth really lay. That she had to open to the possibility that he was perfectly happy where he was and it was she who feared not being with friends and family. Reconciling this was between herself and her heart. Not with him and certainly not with me.
This story had an interesting ending – which I’ll share another time, but I will say they did marry and they are still in the area. When I see her, she seems happier that this is the way it is. I think there was a little “fear busting” as a result of some truth-telling.
So if you don’t have a trusted friend, mentor or coach to help you work through your “stuff”, marinate. Give yourself time, as you need, to work through whatever may be trying to breakthrough. Recognize that it’s just marinating something tender and flavorful for your life.
Let it help you move through the fear and bring you something juicy!
Life Extension Club
