Phenylketonuria Puns

Let's look back at some memorable moments and interesting insights from last year.

Your top 6 posts:

• "PKU Daily Phe Journal" by u/martymart1985
• "Happy Cakeday, r/phenylketonuria! Today you're 9" by u/AutoModerator
• "Hello, I got an idea for a little project that could help PKU community, maybe it is nonsense, but that is why I created this short survey to find out. So if you could spend 5 min of your time and answer these few questions, it would help me a lot. Thank you." by u/Tolimann
• "Animated series about living with PKU" by u/pizwatt
• "Research Study Opportunity!" by u/ke13325
• "Hello, I got an idea for a little project that could help PKU community, maybe it is nonsense, but that is why I created this short survey to find out. So if you could spend 5 min of your time and answer these few questions, it would help me a lot. Thank you." by u/Tolimann

I am someone who has lived in the UK all his life and has Phenylketonuria (PKU) which means I am heavily restricted on the amount of protein I can eat on a daily basis. Currently I am on 6g of protein per day, and me and my family have to prepare a lot of food beforehand. I have to break down the daily amount across the day, so for breakfast/lunch/dinner, I'm only allowed to have 2g of protein. For comparison, McDonald's smallest portion of fries is just over 2g of protein.

11 years ago, my doctor told me about a drug called Kuvan that was making its way onto the NHS that would drastically increase the amount of protein I could eat. At the time, I was told the NHS couldn't afford it, but given how the UK is one of the very small number of countries in the EU that doesn't have Kuvan, it's a bit of a shock.

Not only that, but there are children who are on Kuvan trials - one of them was on 6g of protein, and thanks to Kuvan they were allowed to eat 15g of protein. Another child was on 8g of protein, but thanks to Kuvan they are now on 50g.

I have waited over a decade for Kuvan to make it on prescription, and Boris Johnson did an "interview" where he promised he would get Matt Hancock to get Kuvan on prescription, so it's not like the Prime Minister is oblivious to Kuvan.

If you guys could please help out the PKU community and sign the petition so the government can address this, the entire PKU Community would be so grateful: https://petition.parliament.uk/petitions/300034

Thank you for reading!

I remember running into a UWorld question that states the symptoms of phenylketonuria and dopamine beta-hydroxylase deficiency can be differentiated in that the latter also presents with symptoms of dysautonomia (ptosis, orthostatic hypotension, hypoglycemia).

I can't figure out why phenylketonuria wouldn't cause the same symptoms. If you have a deficiency in phenylalanine hydroxylase, how are you able to produce a sufficient amount of catecholamines to not have the same symptoms seen in dopamine beta-hydroxylase deficiency? Is there a different pathway other than the phenylalanine -> tyrosine -> DOPA pathway where catecholamines can be synthesized?

My short bio: Phenylketonuria is a genetic metabolic disorder that affects about one in every ten to twenty thousand Caucasians and Asians. I have stuck to a very low protein diet since being diagnosed at 5 days old and am healthier than most of my peers today. PKU is a pretty rare disorder, and I get a lot of questions about it, so I thought I'd answer any questions you may have about it whether you have or have not heard of it before.

My Proof: http://imgur.com/bMXRH7d That bottle in the photo is my prescription. The label reads, "MEDICAL FOOD PRODUCT For the dietary management of phenylketonuria (PKU) DISPENSED BY PRESCRIPTION"

Edit: Thanks for all the questions, I'm really enjoying getting to answer you guys! I'm just going to have to take a break real quick, I'll check back later.

Edit 2: Damn! Front page! Thanks for all the questions, some are really interesting and I'm glad to spread my knowledge. I'm trying to get as many questions answered as I can, but with 1000 comments and climbing, that will be tough. I'll be here for a little while longer and I'll come back to this post every now and then to answer more questions.

Edit 3: To clear up a common question: No I do not lift, bro

Edit 4: WOW, reddit gold! Thank you, kind stranger!

I was diagnosed with Phenylketonuria and I was wondering if I'm allowed to have a certain amount of phenylalanine since my body's not developing anymore. I've googled for answers but the stuff I've read can be pretty vague and they usually just cover how to deal with PKU when it comes to infants and children. I might've been looking in the wrong places but I wanted to ask here anyway to set the record straight.

http://en.wikipedia.org/wiki/Phenylketonuria

Tl;dr: The disorder is dealt with by a very strict diet to limit protein/phenylalanine, including a calorie-rich formula that makes up for everything that is "missing" from the strict diet. It tastes awful, like rotten banana-bread. A lot of people cannot have more than 6 grams of protein per day.

If the diet isn't followed, brain-damage is likely to occur. My parents didn't understand the diet when I was born (it's a lot to deal with) so they never followed it. I was also required to have my blood drawn every three months. My mother would "fake" my diet the day before by writing down everything I ate and avoided giving me meat and dairy on those days. Both of my parents are "slow" but well-meaning (not to be rude) but I was fortunate enough to have a more mild version/mutation that kept my blood-levels in or near the "recommended" range, even though they were high. I recently met a woman my age "Jannie" who had parents who didn't understand the diet (exactly like mine) and she is severely mentally handicapped. She had a much more severe mutation.

Reccomended levels of phenylalanine (from protein rich foods) in my blood are supposed to be 2-6 mg/dl. Jannie's are in the 30's.

http://www.youtube.com/watch?v=FY5ZEQfUOqY

AMA

I've searched all over the web trying to find the answer to the question and I can't find anything decisive. Does anyone in the field of biology or medicine know what it is?

Phenylketonuria is a rare autosomal recessive disorder with a carrier rate of 1/50 within Caucasian populations. A family enters a clinic with a sick child. Although neither parent is experiencing symptoms, you suspect PKU after a family history revels that the child’s paternal great-grandmother had this condition. What are the chances, respectively, that the father is a carrier and that the child expresses this trait?

A. 100%, 1%

B. 50%, <1%

C. 50%, 1%

D. 25%, <1%

This was the explanation. Could someone help explain the math to me. I understood the first part of 50%

B is correct. Since the child’s great-grandmother had PKU, she must have possessed two copies of the recessive allele. She passed one of these alleles to her offspring (the father’s mother or father), making him or her an obligate carrier. This individual then had a 50% chance of passing it to the father of the sick child. (Note that we do not need to consider the father’s other parent in this calculation, as the carrier rate is extremely small.) Now, we know that the father had a 50% chance of inheriting one allele and thus has a 50% chance of giving it to his child. As we lack any specific information about the child’s mother, we can assume that she, like the population in general, runs a 1/50 risk of being a carrier. If so, she, too, has a 50% chance of giving her disease allele to the child. Multiplying these proportions yields (1/2)(1/2)(1/50)(1/2), or a 1/400 chance that the child is affected by PKU. A one-in-four-hundred risk is less than 1%.

A few nights ago someone mentioned Phenylketonuria (PKU) in a thread on AskReddit and I responded. Through the next few days I answered a lot of interesting questions. It was suggested that I do an AMA in case there are more.

PKU is a hereditary metabolic disorder in which the liver doesn't produce enough of the enzymes that break down the essential amino acid phenylalanine ("phe" for short.) Phenylalanine would normally be processed into tyrosine, but for individuals with PKU, the enzyme activity is completely nonexistent or diminished, and the increased levels of phe become toxic to the central nervous system. Treatment involves a very restricted diet, and a prescribed medical food that contains all the amino acids except phenylalanine. It is now accepted that treatment must be maintained for life; although in the past, patients were told to stop treatment during adolescence.

Phenylalanine is the main component of the artificial sweetener aspartame, hence the phenylketonuric warnings on gum and diet sodas. It is also present in almost every food to some degree.

Here's the TLDR of what we can/can't eat: No meat, no fish, no eggs, no milk, no tofu, and no nuts. Fruits, most vegetables, and some carbs are ok. Lots of special order foods are available as well. Protein comes from prescribed medical food (formula, "milk", protein shake) and has all the amino acids except phenylalanine.

I was born with phenylketonuria; diagnosed via Newborn Screening shortly after birth. I did not even taste meat until I was 28 years old and trying a new drug that helps keep phe levels in the blood low (in some individuals with PKU). AMA.

Proof has been submitted to the mods.

Edit: I'm heading to bed soon but wanted to leave a few points of data.

-Along with the dietary restrictions, one of our biggest challenges is dealing with the costs of the medical food and specialty foods. Each state in the US has different mandates regarding the ways health insurance companies must cover the medical foods. Insurance companies often claim we can buy it over the counter, therefore they will not cover it. I and others have spent countless hours on the phone explaining the situations over and over, submitting letters of medical necessity and having our specialty clinics call as well. This is the only part of having PKU that really gets to me.

-The only drug currently on the market is prohibitively expensive, even with insurance. One day of the pills can cost a

according to my nursing text. In other news water is still wet. That is all.

Let's look back at some memorable moments and interesting insights from last year.

Your top 6 posts:

• "DietAssistant for PKU is now available for Android." by u/GeniusCoder_1
• "Raising PKU Awareness Through Story; Need Someone to Base Character On" by u/DiseaseStories
• "Is there Any Data on Late Life PKU?" by u/GojuKnight
• "Wife is a carrier. Wants me to get genetic testing" by u/rangersdanger94
• "PKU and forces?" by u/Nayten03
• "Tell me about you" by u/oogabooga114