Side Effects and Disorder

Galactosemia is a disorder in the body that results in the body's inability to metabolize galactose adequately. Galactose is a simple sugar that in correctly functioning body systems is used for energy. What happens when a person has galactosemia is the individual cannot break down the simple sugar and thus becomes lethargic, loses energy, loses weight, becomes jaundiced and the person can -- if untreated -- develop worse complications, such as cataracts, cirrhosis, mental disability and even death (Berry, Walter, 2012). Galactosemia is therefore a very serious disorder. However, it can be treated by simply avoiding galactose (milk-based products have galactose). This paper will discuss galactosemia, what causes it, the disadvantages (and advantages) of it, how to avoid suffering from it, and how to treat it.

What is Galactosemia?

Galactosemia is a condition by which the GALT gene is mutated in a disadvantageous way. The effect is that the body cannot absorb galactose in the way it should, break it down, and get energy from it. Instead, the galactose stays in the body and builds up causing blockage in cells and tissues. Galactosemia is typically diagnosed very quickly after one is born. Nurses can conduct a blood test by taking a drop of blood from the heel of the baby. An examination of the blood will tell if the GALT gene is mutated or not. If the baby's GALT gene is mutated, then the mother is very quickly advised to halt breastfeeding -- the reason being that breast milk contains lactose, which the body breaks down into galactose, which is then normally metabolized -- except when the GALT gene is mutated, the body cannot metabolize galactose -- so the only way to deal with this issue is to avoid putting galactose into the body -- and that means avoiding milk (Broomfield, Brain, Grunewald, 2015).

Causes

Galactosemia is a genetic disorder that is typically inherited. This means that it is passed down from generation to generation. Some cases occur where galactosemia is acquired from an alternate manner but this is rare. The most common way in which galactosemia is acquired is through genetics that are passed on.

What happens in the case of galactosemia to the patient is that the body is unable to break down lactose into galactose and glucose, which are sugars that the body metabolizes for energy. Galactose is also something that body can make itself. However, when galactosemia is had, the person cannot eat lactose or galactose products because the body is unable to handle these sugars and convert them into energy. The galactose therefore builds up in the cells and tissues and can cause infections, vomiting, and even death.

There are actually three types of galactosemia. First, there is Galactose-1 phosphate uridyl transferase deficiency -- which is the medical name for classic galactosemia -- the most common type of the disorder (Haldenman-Englert, 2015).

Second, there is what is called a deficiency of galactose kinase. This is less common than the former and is not detected in screenings. It is the result of a mutated GALK gene. It is actually so rare that diagnoses of this type of the disorder are difficult to form.

Third, there is Epimerase deficiency which is a result of a mutated GALE gene. This type of the disorder is not as bad as the other two because only partial inability to metabolize galactose is present. Impaired GALE activity can lead to problems if complete GALE inactivity results but this is not commonly the case.

Disadvantages

The disadvantages of having galactosemia are self-evident: one is obliged to avoid all dairy products and any foods that might have galactose, because consumption of these foods and/or products can be potentially life-threatening. Essentially, when you have galactosemia your body is physically handicapped: it cannot do what a normal, healthy body should do. Therefore, there are serious restrictions on the diet of a person with galactosemia.

Another disadvantage is the fact that the situation must be constantly monitored. One has to be aware of one's body at all times and of what one is ingesting -- and one also has to regularly undergo testing in order to make sure that nothing is worsening with one's condition, especially if one has epimerase deficiency, which can worsen and cause a partial inability to metabolize galactose to become a full-blown inability to metabolize the sugar. Thus, this situation has to be continually addressed so that no one is caught off guard.

It is especially disadvantageous for babies because they need their mother's milk to grow and develop. They must therefore take baby formula as a substitute and this can be expensive for some families as buying formula is not a cheap option in today's market. However, for families that are impoverished, formula can be obtained via programs subsidized by the federal government (Galactosemia Foundation, 2015).

Advantages

There are no real advantages of galactosemia -- unless one views avoiding dairy products as an advantage. In fact, some people do. Dr. Mark Hyman (2015) for instance argues that milk is good if you're a calf. If you are a human, milk is only something you need as a baby -- and only then if you are nursing. Milk is not a product that people have to or should consume according to Hyman. Hyman gives a number of reasons why dairy should be avoided by everyone: First, it does not help to make bones stronger. In fact, studies have shown that it can actually make bones weaker. Second, consuming milk does not prevent fractures -- on the contrary, it can add to the likelihood, as studies have found that countries where milk is not consumed very much there are few cases of osteoporosis (Hyman, 2015). Third, calcium does not benefit bones -- Vitamin D does. Fourth, calcium may actually cause cancer -- another reason to avoid milk.

People who cannot consume dairy because of galactosemia are therefore already ahead of the curve, so to speak, because they are avoiding consumption of a product that may be potentially bad for their health in the long run. In this sense, galactosemia can actually be a blessing in disguise -- so long as it is identified and treated, of course. An untreated case can be serious trouble.

How to Avoid Suffering from Galactosemia

The best way to avoid suffering from galactosemia is to avoid lactose products and foods that might contain galactose. This will ensure that your body does not have to endure a galactose build-up. However, just attempting to avoid so many different food products (you are essentially lactose-intolerant, since galactose makes up half of lactose) can lead to suffering. For example, there is the social stigma side of the disorder. If you are a young person and are at a birthday party where everyone is eating cake and ice cream, you may have to sit out and not partake of the festivities because of your condition. This could lead to embarrassment and cause so unhealthy social feelings to develop in you. Therefore, it is important that young persons with galactosemia be counseled and receive therapy at the appropriate ages so that they do not suffer from potentially embarrassing situations. With the right help and guidance they can be enabled to lead happy and socially-rewarding lives in spite of their disability.

For infants, the best way to reduce suffering is to give them soy formula or any other lactose-free baby formula. Calcium supplements are also recommended so as to help the baby develop properly.

One possible danger, however, in spite of all of these precautions is that mild mental retardation may occur. So this is something that has to be monitored because if it does occur, the individual and his or her family will want to receive counseling on how to proceed through life in this manner.

Because speech and learning disabilities may also occur in children, these signs and symptoms also have to be monitored. A child's growth should be closely observed so that no undue suffering is left untreated. Complications can and do arise as a result of galactosemia, even if lactose is avoided. Essentially, the genetic mutation can impact other parts of the body that relate to development.

How to Treat

The best way to treat galactosemia is to simply avoid lactose products. For babies that means avoiding the mother's milk and for everyone else it means avoid dairy products completely.