Classic Galactosemia Research Paper

Disease Overview Type 1 or classic galactosemia is autosomal recessive disease that has the potential to become lethal. This disease causes the inability for newborns to process galactose within their liver. This can be fatal as rising levels of galactose within the body can be very toxic. Even individuals who survive the high level of galactose would obtain neurological damage. This disease has several variations, however, this particular manifestation is the result of gene that encode for galatctose 1-phosphate. Treatment for this disease would usually require early detection or immediate care to prevent any further damage. The some damages cause by Type 1 galactosemia are irreversible. The modern innovations of techniques has helped keep galactosemia from becoming severe, however, there is no known cure. Gene Product Classic galactosemia is correlated to mutation of a single gene. That mutation is located on 9p13.3 part of the chromosome. The alteration of the chromosome 9p, in which around 4,000 base pairs are affected by mutation. This usual affect the GALT gene …show more content…
There are other types of galactosemia, however, type 2 and type 3 galactosemia are not as severe as type 1. Other types are caused by different mutations. The screening for type 1 is mainly on that gene of the parents as well as the fetus during develop. Other forms of screening, would be to check urine sample for excess amount of galactose (Unic, 2015). The urine test is to check if there is excessive amount of galactitol (Prasad et al. 1998). The high amount of galactitol, which is a sugar alcohol that is derived from galactose, is a good indicator of accumulation of galactose. Other than testing the urine, physicians may check the placenta for any sign of galactose as the baby may excreted fluids into it. The effects of classical galactosemia are usually apparent after birth, thus being another way of