Galactosemia Type 2

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DNA or deoxyribonucleic acid is made up of molecules that are called nucleotides. Each nucleotide consists of a phosphate, a sugar, and a nitrogenous base. In DNA there are four nitrogenous bases, adenine, thymine, guanine, and cytosine. The four bases bond together to form the special shape of DNA called a double helix. In the double helix adenine and thymine can only bond with one another, the same rule applies to guanine and cytosine. These strands of DNA carry specific instructions to create what are called genes in cells. These genes carry the information that is copied from generation to generation each time a cell is formed. The genes that children have are received by their parents along with the genes that the parents received from …show more content…
Galactosemia type I can occur in the GALT gene, this type can have life-threatening symptoms such as a lack of energy, a failure to gain weight, yellowing of the skin and eyes, or jaundice, liver damage, and abnormal bleeding. Galactosemia type II can occur in the GALK1 gene and while causing fewer problems than type I can still cause infants to develop cataracts, but otherwise causes very few long-term problems. Galactosemia type III can occur in the GALE gene, has various symptoms such as varying degrees of cataracts, delayed growth and development, intellectual disabilities, liver disease, and kidney problems. In galactosemia types II and III the shortages of the digestive enzymes can cause a build-up of several compounds that can reach toxic levels in the body. These compounds when accumulated can cause damage to tissues and organs that can lead to characteristics of galactosemia. Galactosemia’s main treatment is to reduce the intake of galactose from foods and to have substitutes for many milk products such as soy bean foods and …show more content…
Gene therapy is the use of genes to help to treat or prevent diseases. It is believed that this technique will one day allow doctors to treat a disorder by inserting a certain gene into a patient’s cells without having to use drugs or going into surgery like today. Instead the genes could be placed into the body through injection or an IV into either a specific area or tissue of the body where an abnormality is found. Some of the methods that are being tested are: replacing a mutated gene with a normal gene to prevent a disease from being caused, trading out a mutated gene that does not function properly, and even introducing a whole new gene into the body to fight a disease. The problem with these methods however, is that the techniques are still quite risky and as such are under study until they can be done safely and
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