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...
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