Classic Galactosemia Research Paper
Galactosemia Galactosemia is a genetically inherited metabolic disorder. This disorder leaves the disabled with a partial or complete lack of the enzyme Galactose 1 Phosphate Uridyl Transferase (GALT). This enzyme is found in the bloodstream and it is used for breaking down the sugar galactose. This disorder comes in two different variations. Though there is more than one type, it is still rare, having only 1 in 80,000 births being affected by the disorder. Classic Galactosemia is the first and more common form of the disorder. This is the form when the affected has a complete loss of the enzyme. Both parents must contribute a galactosemic gene for a child to receive this very deadly form of the disorder. Because the body has none of the enzyme needed to turn galactose into glucose an accumulation occurs that is like a poison and is highly fatal. Classic Galactosemia is treatable through a strict diet of absolutely no lactose or galactose. Some common foods containing these are dairy products, legumes, breast milk,
…show more content…
This persons genotype is N/N and they have normal fully functioning enzyme activity. A carrier of classic galactosemia inheriets one affected gene and one non, this persons genotype is G/N. This person has less than normal enzyme activity, but nothing that requires a diet or medical treatment. A classic galactosemic has two classic galactosemia genes. One from each parent. Their genotype is G/G. someone affected by duarte galactosemia can have one of a few genotypes. D/N, D/D, and D/G are all options, whereas N means nothing, G means classic, and D means duarte. D/N is just a duarte carrier but not affected, this person has about 75% enzyme activity. D/D is affected by duarte galactosemia and has about 50% enzyme activity. D/G is also affected by duarte galactosemia, but this one only has about 25%-50% enzyme
This persons genotype is N/N and they have normal fully functioning enzyme activity. A carrier of classic galactosemia inheriets one affected gene and one non, this persons genotype is G/N. This person has less than normal enzyme activity, but nothing that requires a diet or medical treatment. A classic galactosemic has two classic galactosemia genes. One from each parent. Their genotype is G/G. someone affected by duarte galactosemia can have one of a few genotypes. D/N, D/D, and D/G are all options, whereas N means nothing, G means classic, and D means duarte. D/N is just a duarte carrier but not affected, this person has about 75% enzyme activity. D/D is affected by duarte galactosemia and has about 50% enzyme activity. D/G is also affected by duarte galactosemia, but this one only has about 25%-50% enzyme