Phenylketonuria Essay

In this world there are multifarious number of genetic disorders such as autism, Alzheimer's disease, Down syndrome, and many more. Some can be treated while others can't. In this paper, I'll mainly focus on Phenylketonuria and of its properties. Phenylketonuria also known as PKU is a rare metabolic disorder caused by a deficiency of phenylalanine hydroxylase , which is an enzyme that helps to convert phenylalanine, an amino acid that is found in foods, into tyrosine, an amino acid that creates melanin (Letcher, MA & Hunt, PhD, CGC, 2016). Phenylalanine is a vital necessity for the human body because it helps to construct proteins for the body and without phenylalanine hydroxylase to convert phenylalanine, the result is the buildup of phenylalanine inside the body. PKU generally affects the brain and the blood stream. There are different types of PKU such as classic PKU, moderate or variant PKU, mild PKU, maternal
After that, A doctor takes a blood sample from the baby’s heel to test if he or she has the disorder. Genetic counseling is an option to see what the factors of having the disorder. People who live in Northern Europe countries like Ireland, Norway, Finland, are more likely to have PKU. About one out of every 15,000 to 20,000 babies has PKU. It is more common in Northern Europe. To sum up, Phenylketonuria is a genetic disorder that is caused by a deficiency of phenylalanine hydroxylase. It causes intellectual disability, delayed speech development, and more. Even though there are treatments to the disorder such as dieting, the disorder still can't be cured. One possibility of curing PKU patients is with gene therapy, even though it's not effective now, but with the data and studies, gene therapy for PKU could be effective in the next couple of years or so. Overall, PKU could be cured with the constant studies and