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Short Facts about Tay Sachs Disease, Wilson’s Disease and Cystinosis

Tay-Sachs Disease

  • What happens in the body with Tay-Sachs is that the body is no longer able to break down a certain type of fatty substance in the body.
  • With Wilson’s disease, the liver cannot properly remove copper from the body.
  • With Cystinosis, Cystine (a type of amino acid) begins to build up in the body’s organs and forms cystine crystals. These crystals form in various parts of the body, including the muscles, pancreas, brain, eyes, and kidneys.

When most of us think of the term “metabolism,” we think of weight loss. After all, most of us have heard that a faster metabolism is the key to dropping pounds fast. However, fewer of us know about the existence of metabolic diseases. These serious health problems need to be better understood if there is any hope of treatment or prevention in the future.

What are Metabolic Diseases?

Metabolism is the process by which our body converts the nutrients in the food we eat into the energy our body needs to continue functioning properly. Metabolic diseases refer to any type of disorder that causes the metabolic process to stop functioning correctly. In most cases, these diseases are passed on genetically.

Thousands of metabolic diseases have been recognized by the medical community. Thankfully, they are relatively rare. Only about one in every 4,000 people has one of these diseases. For those who suffer from such diseases, the sad fact is that no cure is currently available, although research is ongoing in that direction. Some treatments have become available to improve the quality of life and longevity of sufferers.

Three Specific Types of Metabolic Diseases

Tay-Sachs disease is one example. What happens in the body with Tay-Sachs is that the body is no longer able to break down a certain type of fatty substance in the body. Because of this, those substances build up in the body over time and end up becoming toxic to the brain. As the buildup increases, the body slowly begins to shut down. Patients go blind, deaf, suffer from respiratory problems, and eventually become paralyzed before dying. For most suffers, the disease is genetic and affects babies at about 6 months of age. Most people who have these types of metabolic diseases do not live more than a handful of years.


Another type of metabolic disease is called Wilson’s disease. With this type of health condition, the liver cannot properly remove copper from the body. As a result, copper levels increase to dangerous levels in the body and in the liver. Over time, the copper causes significant damage to the liver and that causes cirrhosis. At this point, the liver’s ability to work in any capacity becomes compromised. When the copper begins moving through the body because no more can be accumulated in the liver, additional damage can be done to the sufferer’s brain, kidneys, and eyes. Like most metabolic diseases, Wilson’s disease is fatal if diagnosis is not made and treatment is not started as soon as possible.

Cystinosis is another example of a metabolic disease. Like Tay-Sachs, this disorder normally attacks children. Cystine (a type of amino acid) begins to build up in the body’s organs and forms cystine crystals. These crystals form in various parts of the body, including the muscles, pancreas, brain, eyes, and kidneys. Problems can begin showing up in the child as early as 10 months of age. Without the proper treatment, these children develop Fanconi syndrome, which leads to renal failure. Children who have this type of metabolic disease can die by the age of 10.

While you may not be able to control whether or not you will develop these diseases, you can control how you keep your body. To promote a well-working body, you must be sure to get all of the required nutrients which include all kinds of vitamins and minerals. If you feel like you’re not getting an adequate amount in your diet, there are natural supplements to help. Check out products like Take One Multiple and Trace Mineralswhich promote overall health while providing your body with daily nutrients.

The information supplied in this article is not to be considered as medical advice and is for educational purposes only.

2 Responses to “Short Facts about Tay Sachs Disease, Wilson’s Disease and Cystinosis”

  1. 1
    Prof. Nutralegacy Says:
    Dear Mr. Ahmed, First let me say that I am very sorry for your loss and the difficult time which you have experienced. Hopefully you have family and friends who are there to comfort and help you through this time. Obviously, it would be impossible for me to comment on what the cause was of your daughter's death. I agree with your doctors when they say it may be difficult to fully determine what the actual cause was. There are literally hundreds of factors that could have caused a metabolic disorder, and many of these could have been genetic. I appreciate the fact that you are still pressing on to find out what happened, if for no other reason than to determine what the safety is of your having children in the future. Again, please accept my condolences and I wish you the best. Meredith
  2. 2
    MR AHMED Says:
    can you please email me - our daughter died just 7 weeks old from a metabolic disorder and we dont know what it was - her fat content was 38.8% and we are told that was not the cause it was due to the fact that her body shut down - we are told we may never know the answer but we have given her blood samples and skin samples - i hope you can help