Phenylketonuria(PKU)_Brian+Popeck

Phenylketonuria (PKU) Family Pedigree Description Amy married Scott. They both did not have phenylketonuria, but were carriers of it. They had four children named Josh,Sarah,Jake, and Stewart. Josh had PKU, Sarah and Lauren were carriers, and Stewart did not have phenylketonuria. Josh married Stacey, who was a carrier. They had three children whose names were Carrie,Victoria, and Kelly. Carrie and Victoria had PKU, and Kelly was a carrier. Sarah married Jake, who did not have phenylketonuria, and they had one kid named Alex. Alex was a carrier for PKU. Stewart did not get married. Lauren married Sam, who does not have phenylketonuria. They had two kids named Steve and Charlie. Steve does not have PKU and Charlie is a carrier for it. Carrie married Frank, who does not have phenylketonuria, and they had two kids named Michelle and Kevin. Both kids are carriers for PKU. Victoria did not get married. Kelly married Adam, who did not have phenylketonuria. They had four children named Kim, Paul, Emily, and Philip. Kim and Philip have PKU, and Paul and Emily are carriers for it. Charlie married Rachel, who has PKU. They had one kid named Sally who has phenylketonuria.

[]

[]

[]

[|www.mayoclinic.com/health/phenylketonuria/DS00514/DSECTION=symptons]

Phenylketonuria (PKU) Journal Entries

December 27, 2011

My name is Justin Roberts. I am 11 years old and I received this journal as a Christmas present. It’s not one of my favorite gifts, but Mom and Dad are making me write in it. We just came back from my grandparents' house and I’m about to go play with my new gifts.

January 3, 2012

Today was our first day back at school and surprisingly we have a new student in our homeroom. His name is Jake Blare. He seems like a nice kid, but most of the students in our class stayed away for him for some reason. He is in all of my classes. Throughout the day, he mostly just let his aide show him around the school. I saw him sitting alone at lunch and felt bad, so I joined him. It turns out Jake is a pretty quiet kid. I hope I can get him to talk a little more tomorrow.

January 4, 2012

I found out a little more about that Jake kid from the other day. I offered to be his partner for a project we are doing in school. I was a little surprised when, after we had been working as a fairly successful partnership for a little over a half an hour, I asked to borrow a pen from him, and he began to suddenly become flustered. His aide took him out in the hallway and the teacher must seen the surprised looks on most of my classmates faces because we received a talk about Jake’s “condition”. It appears as if he has a disease called "Phenylketonuria". Unfortunately, the teacher started using really big words that went pretty much over our entire class’s heads. Then, the apparently bored kid behind me decided to try and kick the back of my chair as many times as he could. Needless to say, I have almost no idea of what the disease is. Time to research it.

January 5, 2012

Phenylketonuria is a genetic disease. A protein called PAH (phenylalanine hydroxylase) has its shape mutated. It becomes no longer able to properly break down phenylalanine. This begins to build up and poison the nervous system, causing potential brain damage if left untreated. I assume this is what happened to Jake. Phenylketonuria is harmful early on in an infant’s life. I wonder if he was screened properly when he was born. I also discovered a list of symptoms. One of them is epilepsy, which can seizures containing jerking movements and momentary confusion or loss of awareness. It must be a pain when that happens in public. That might be one of the reasons Jake has an aide. Another symptom is behavioral problems that might hurt the patient’s ability to relate to their peers. Some physical abnormalities were listed as symptoms, and I guess Jake does have some of them. He is a little on the small side, so maybe his growth was stunted. He also has a small head and fair skin. I’m not sure about the musty body odor or skin rash, though. He seems a little hyperactive, probably as a result of the damage to his friend. The only thing that confuses me is that I saw both of his parents come into school to pick up his schoolwork (Jake was absent today) and neither of them had any of the systems of PKU, as the disease is sometimes called. If it’s genetic, how didJakeget the disease if none of his parents had it? I found a really great article online written by Dr. Hua. Maybe I can send him an email with some of my questions.

January 8, 2012

The expert on phenylketonuria got back to me surprisingly quickly. The disease was uncovered by Asborjn Folling during the year of 1934. One in every fifteen thousand babies have PKU. I found out that PKU’s method of inheritance is autosomal recessive. That means that two copies of the allele for this disease must be passed down to the offspring in order for them to inherit the disease. If a person has one allele for the disease, they do not have the disease or show any symptoms, but are considered a carrier for it. This means that they still have the ability to pass the disease onto their offspring. I guess this was how Jake became afflicted with PKU. Both his parents must have been carriers for the disease, and Jake had a one-in-four chance of getting phenylketonuria, and he did. I hope I get a chance to talk to Jake about PKU if he is not too sensitive about it.

January 9, 2012

I’m glad I could talk to Jake today. He gave an apology for last week and said that doesn’t happen very often. Jake apparently has a moderate case of PKU. I asked him what treatments he had to undergo, and he said not much, just he has to eat a special diet lacking protein. Jake does see the doctor for checkups on a regular basis though. This is because protein contains phenylalanine, which PKU robs the body of its ability to properly break it down. His doctor also recommends staying away from artificial sweeteners. I’m glad I met Jake. He seems like a really nice guy and I hope I can be his friend. I learned a lot about his disease.