Dr. Patel: Hello, Mr. and Mrs. Lee. How are you today?
Mr. Lee: Hello, we are doing fine. Have you talk to Dr. Poole.
Dr. Patel: Well, yes I have. I have discussed your situation and I am here to help you get a better understanding of what Phenylketonuria (PKU).
Mr. Lee: Thank you so much Dr. Patel. We have a lot of questions. We are a bit confused on what PKU is?
Dr. Patel: Alrighty. I will try my best to make it clearer for you and your wife.
Dr. Patel: Phenylketonuria (PKU) is a rare genetic condition that causes an amino acid called phenylalanine to build up in the body. It is a inherited disorder that is left untreated, changes cells inside the brain and leads to mental disorder.
Mrs. Lee: What is this mutation including that causes PKU?
Dr. Patel: The PAH gene is what causes PKU to occur.…show more content… Patel: This diagram here shows us what the phenylalanine uses in healthy person vs. a person with PKU.
Mr. Lee: What if PAH does not occur? Are the chance worsen or get better?
Dr. Patel: If there is no PAH taking place, then the chance worsen due to the fact that phenylalanine can get build up in the blood. The build up of phenylalanine in the blood causes blockage of other amino acids from entering the brain. These amino acids are very essential to the brain and important to the formation neurotransmitters; also other neural proteins such as myelin.
Mrs. Lee: Okay that makes sense now. But what about how does it affect the symptoms?
Dr. Patel: If PKU is not treated, phenylalanine can build up to harmful levels in the body, causing intellectual disability and other serious health problems. Symptoms of PKU develop in their children when both parents donate one autosomal recessive condition to the newborn.
Dr. Patel: I hope I answered all of your questions. Did I miss anything or any more questions?
Mr. Lee: No, no thank you so much for taking your time to answer our questions and doubts. Now we got a depth understanding on what PKU is and how it is
