Galactosemia is the condition when the human body cannot metabolize galactose. This disease is a mutation within the humans DNA containing the gene GALT. GALT is responsible for the enzymes that catalyze and help metabolize galactose. The mutation causing those enzymes to be defective resulting in a build up of galactose in body tissues. This can be very fatal to newborns.
Galactosemia was first discovered by Von Ruess in 1908 when a breastfed infant had an enlarged liver and spleen. He also documented the infant excreted it through urine when it was no longer drinking dairy products.
No specific race of people carry Galactosemia. It is inherited from a patients parents through autosomal recessive manner. If the parents have it or even a nonworking gene of it their child is likely to have a 25% chance of inheriting the gene.
Ways Galactosemia can be diagnosed is by looking at enzyme activity, ketones in urine, and E Coli in the bloodstream. The symptoms for Galactosemia can be damage to the liver, brain, kidneys, eyes, and spleen but only when ingesting galactose. Long term affects can be different type of mental impairments. Newborns that are that have this disease may get yellow skin, white eyes, and suffer from convulsions if not treated quickly. There is no cure for Galactosemia but it can be treated by simply not ingesting any galactose. People treated early before much damage can be done to there body can live normal lives as long as anything containing galactose stays out of their diet.
NCBI. “ Galactose-1-Phosphate Uridylyltransferase [ Homo Sapiens (Human) ].” National Center for Biotechnology Information, U.S. National Library of Medicine, 2017, www.ncbi.nlm.nih.gov/gene?term=22165416%5BPUID%5D&RID=8YPT6W7M014&log%24=genealign&blast_rank=1.
“Galactosemia.” MedlinePlus Medical Encyclopedia, 2017, medlineplus.gov/ency/article/000366.htm.
Galactosemia Foundation. “History of Galactosemia.” History of Galactosemia, Galactosemia Foundation, 2017, www.galactosemia.org/history-of-galactosemia/.