Tag Archives: Phenylketonuria

At-a-glance PKU Pantry Labels

At-a-glance PKU Pantry Labels

One of my recent Pinterest-inspired projects was creating burlap labels for my pantry. It’s a fun DIY project that spoke to my inner organizing freak.

Grouping similar products in baskets or other containers make it easier to find products quickly and placing ingredients in clear jars let you know when you’re getting low. Among other labels, I decided to create hanging canister labels for brown sugar, wheat starch and baking mix—three ingredients I use frequently, especially when making tasty PKU-friendly cakes, cookies and pastries.

At-a-glance PKU Pantry LabelsI use Cook for Love’s baking mix, which if you’re familiar with it, you know it is comprised of three key ingredients. To make life a little simpler, I decided to make an at-a-glance label on the backside of the baking mix canister that reminds me of the key ingredients without having to look it up online or find the recipe I printed eons ago. Also to save time, I like to make the baking mix in bulk. In fact, I have doubled the baking mix recipe in the canister shown here.

If you aren’t necessarily the crafty type, you can still take a similar approach by a using a large, sealable plastic container to make the baking mix and a permanent marker to jot down the ingredients on the outside of the container. Not as pretty, but definitely just as functional. Just remember to whisk before each use!

–NM

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What’s in a name? A closer look at changing the name of PKU

Changing the name of PKU, PKU name change, from PKU to PAH deficiency

Recently, the American College of Medical Genetics and Genomics released new guidelines in support of lifelong treatment for PKU. Among other recommendations, the organization also suggested the name of the disease be changed from PKU, short for phenylketonuria, to phenylalanine hydroxylase deficiency, or PAH deficiency.

The ACMG acknowledges that there are several ways to describe PKU severity and specifically calls-out at least two naming conventions that are commonly used:

  1. PKU, the more severe diagnosis where untreated patients have blood phe levels greater than 1,200 μmol/l or 20 mg/dl and,
  2. hyperphenylalaninemia, which represents a milder diagnosis where untreated patients are still above what’s considered normal but less than 1,200 μmol/l or 20 mg/dl.

After the National Institutes of Health introduced the term hyperphenylalaninemia in 2000, we started seeing an increasing number of clinicians, patients and families of patients refer to the first, more severe category as classical PKU. The new name PAH deficiency, the ACMG proposes, would eliminate the practice of using the blood phe level as the standard of classification by representing all of these variations.

The communications and marketing professional in me knows that over the life of a product or business, there may be many reasons the decision is made to change a brand name including mergers/acquisitions, changing markets, new leadership, and to even eliminate a negative reputation.

In the case of PKU and the ACMG’s recommended name change, the decision was made because PAH deficiency more accurately describes what the authors refer to as the “spectrum of severity.” But, it’s worth noting that descriptive names can also have their own subset of issues. Brand names that are too literal can become forgetful or inaccurate over time. Names that are too complex or long can impact a person’s ability to pronounce or remember it.

What’s more, we also know that the use of medical jargon can make it difficult for individuals to absorb and process health-related information. So what will the impact be when folks within the PKU community try to make the transition to phenylalanine hydroxylase deficiency? When phenylketonuria was introduced into the vernacular in 1934, it likely created its own source of confusion in the patient community. Yet, there is something to be said for brand recognition. Overtime, the brand familiarity of PKU has become stronger within the community and it’s likely that many PKU patients have a strong association with the term PKU, and to some extent, identify themselves with the now-outdated term.

It will take time for PAH deficiency to be wholly embraced. Even I have started to wonder, “What does this name change do to the title of my blog?” I’m not quite ready to makeover PKU Parlor, but I can acknowledge that with the name change there could be some benefits. For example, wrapping-up the varying levels of PKU severity under one umbrella may go a long way for securing universal medical food and formula coverage. Lawmakers and other decision makers will be less inclined to offer coverage to a severe group of PKU patients while simultaneously denying or restricting access to those with milder cases.

So as a member of the PKU PAH deficiency community, how do you feel about the name change? Are you reluctant to make the transition? Or do you embrace the new name and find yourself excited for the fresh start? I’d like to hear from you and what your reaction was to the suggested name change. Also, if you ever thought of alternative names for PKU, be sure to share them in the comments field below.

–NM

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Setting a standard for the treatment of PKU

new PKU guidelines, PKU standards, dietary and medical recommendations for PKU

There’s some wonderful news floating around the PKU community this week: The American College of Medical Genetics and Genomics, in partnership with Genetic Metabolic Dieticians International, have released the first-ever, specific medical and dietary guidelines for the treatment of PKU. These guidelines are based upon the National Institutes of Health (NIH) 2000 Consensus Conference for PKU, the 2012 NIH Scientific Review Conference and a review by the U.S. Agency for Healthcare Research and Quality.

If you aren’t familiar with the healthcare industry, you may be asking yourself, “What’s the difference between medical consensus and medical guidelines?” Last year (in 2013), the NIH retired its consensus development program, but since it was created in 1977, the program created agreed-upon statements interpreting what was currently known about a medical condition as well as what research gaps might still exist. These statements—like the one the NIH issued in 2000 for the treatment of PKU—are then used to develop medical guidelines. Your medical team located at your local PKU clinic will use these guidelines to support the decisions they make related to your care. The introduction of these guidelines will undoubtedly play a critical role in ensuring that all patients in the U.S. and Canada receive the highest quality of care and treatment in the management of their PKU.

Listed below are the key recommendations from the new guidelines as summarized by the National PKU Alliance. Be sure to visit the New Guidelines for PKU section on their website to read a full summary or to download the new guidelines for the medical and dietary management of PKU.

  • The guidelines refer to PKU as phenylalanine hydroxylase (PHA) deficiency.
  • The treatment of PKU is lifelong with a goal of maintaining blood PHE levels in the range of 120-360 umol/l (2-6 mg/dl) in patients of all ages for life.
  • Patients treated within the early weeks of life with initial good metabolic control, but who lose that control in later childhood or as an adult, may experience both reversible and irreversible neuropsychiatric consequences.
  • PAH genotyping (i.e. mutation analysis) is recommended for improved therapy planning.
  • Medical foods (formula and foods modified to be low in protein) are medically necessary for people living with PKU and should be regarded as medications.
  • Any combination of therapies (medical foods, Kuvan, etc) that improve a patient’s blood PHE levels is appropriate and should be individualized.
  • Reduction of blood PHE, increase in PHE tolerance or improvement in clinical symptoms of PKU are all valid indications to continue a particular therapy.
  • Genetic counseling should be provided as an ongoing process for individuals with PKU and their families.
  • Due to an increased risk for neurocognitive and psychological issues, regular mental health monitoring is warranted. A number of screening tests are recommended to identify those in need of further assessment.
  • Blood PHE should be monitored at a consistent time during the day, preferably 2-3 hours after eating.

In the coming days and weeks, I’ll take a closer look at some of the specific issues outlined within the guidelines and discuss them in more detail here on PKU Parlor. I hope you’ll stop by and chime-in with your thoughts too!

–NM

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PKU patients and caregivers can participate in study for evaluating device linked to PEG-PAL

If you live in the San Francisco Bay-area and either have PKU or care for someone with PKU, there is an opportunity to participate in a paid usability study for a potential medication delivery device.

The device at the center of the usability study would used to administer PEG-PAL, an injectable enzyme substitution developed by BioMarin Pharmaceutical that has shown to lower phe levels in PKU mice. According to the National PKU Alliance, PEG-PAL recently completed Phase 2 FDA clinical studies and all patients enrolled in that phase had experienced some measurable decrease in blood phenylalanine levels. BioMarin is moving forward with the third and final phase that would ultimately bring PEG-PAL to a commercial status, which also explains the recent interest in figuring out just how patients will react to the process of injecting themselves with the drug.

Interface Analysis Associates, the California-based human behavior consultancy firm that has partnered with BioMarin for this study, will offer two 30-minute sessions in early September 2013 and will pay participants $150 to learn how the device works and perform mock injections. There will be no needle pricks and no actual medication administered. Participants will be asked to provide feedback on their experience and preferences.

Usability Study for PKU Patients and Caregivers

Click image to enlarge.

I was asked to participate in the study but because of the 2,500 miles between East Tennessee and the West Coast I had to respectfully decline. Nonetheless, it’s a great opportunity for others in the PKU community to directly impact the design and functionality of how this exciting new treatment will be delivered. It was also smart of BioMarin to initiate this usability study – not just from a bottom-line perspective but also because patients will have an investment in the product, the opportunity to suggest design improvements, and will likely become more satisfied with how it works.

If you’re interested in participating in the study, be sure to sign-up quickly. September is right around the corner!

–NM

P.S. If you do participate in the study, you’ll have to return to PKU Parlor and let us all know how it went! :-)

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PKU-Friendly Sweet Potato Casserole with Bananas

PKU-Friendly Sweet Potato Casserole

This recipe is an adaptation of one I recently saw demonstrated on one of our local weekend morning news shows. Using roasted bananas provides a natural sweetener and also adds fiber and potassium into the PKU diet. With a few slight changes to the ingredients and some gram-scale measurements, I was also able to figure out the amount of phe per serving. In addition to being an awesomely flavorful comfort food perfect for the approaching holiday season, this recipe yields enough servings to feed the entire family. Here’s how you make it:

Ingredients

  • 6 pounds (about 6) sweet potatoes
    (approximately 1,480 grams when measured after being mashed)
  • 2 ripe bananas, skins on
  • 1/2 stick unsalted butter, softened
  • 1/2 cup Michele’s Butter Pecan Syrup
  • 2 tablespoons ground cinnamon
  • 2 teaspoons pumpkin pie spice
  • 1/2 teaspoon salt
  • 2 cups of miniature marshmallows
  • 2 tablespoons of brown sugar

Directions

Preheat oven to 425 degrees F.
Peel the sweet potatoes, cut into large chunks and boil until soft (try piercing with a fork to determine when done).

PKU-Friendly Sweet Potato Casserole

Meanwhile, roast the bananas, with the skins on, for 15 minutes. Transfer potatoes to a large mixing bowl and pulse with a hand mixer until whipped. When the bananas are cool enough to handle, slice the end opposite from the stem with a sharp knife.

PKU-Friendly Sweet Potato Casserole

While holding the bananas from the stem, squeeze the contents into the bowl of mashed sweet potatoes. Add the butter and maple syrup, mix until smooth. Add the cinnamon, pumpkin pie spice and salt; mix to combine. Transfer to a shallow baking pan and smooth out the surface with a spatula. Top potato-banana mixture with marshmallows and evenly sprinkled brown sugar. Bake at 300 degrees F until heated through, about 20 minutes. For the last minute or so of baking time, switch your oven to broil for that campfire roasted marshmallow consistency.

Couple of things to note: I selected Michele’s Butter Pecan Syrup for two reasons: 1.) it is completely phe free and 2.) I really wanted to add butter-roasted pecans, but as we all know, that’s a PKU no-no. If you decide to use a different brand of syrup, be sure to adjust the phe as needed. Also, feel free to have fun with the toppings. Instead of marshmallows, you may want to try raisins for a healthier option.

Yield: 8 servings
Phe: Entire recipe = 1,340 mg; 167.5 mg/serving
Calories: Entire recipe = 2,616 calories; 327 calories/serving
* Simply divide the casserole into 10 servings for fewer mg of phe/serving.

–NM

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Creating a kitchen tablet holder for PKU recipes

According to the Pew Internet & American Life Project, a third of American adults ages 18 and older own a tablet computer like an iPad, Samsung Galaxy Tab, Google Nexus or Kindle Fire. That’s almost twice as many from one year ago. Chances are, folks in the PKU community are no exception to this growing trend. In fact, I tend to use my own tablet for referring to recipes as opposed to the traditional printed cookbooks. That’s where the inspiration for this DIY project came from. Here’s how you can also make your own kitchen tablet holder for PKU recipes.

DIY kitchen tablet holder for PKU recipes

First, I found an old cutting board from a thrift store for $1.50. Then I purchased a Scrabble tile holder from a local antiques and collectables store for $5. For a little embellishment, I found unfinished wooden letters from JoAnn Fabrics (although you could also find something similar at other hobby stores such as Michaels and Hobby Lobby). Lastly, you need a wooden wedge of sorts. My brother-in-law, who is handy with a power saw, made mine, but a child’s wooden block would also work. unfinished pics-croppedUse wood glue to assemble the pieces, allow to dry over night, and cover with your favorite paint color. I decided to use a slightly darker shade for the “Create” letters so that it would pop a little.

DIY kitchen tablet holder for PKU recipesEnjoy!

–NM

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Hair Loss experienced by PKU patients returning to the low-protein diet is temporary

There is some good news to report back to my blog followers: hair loss related to a return to the low-protein diet is temporary.

Earlier this month, I published a post titled Losing it: Both literally and figuratively over PKU and hair loss and during that post, I mentioned that PKU patients experiencing significant hair loss after returning to the PKU diet may want to see a specialist for insight behind the cause. I decided to take my own advice and scheduled an appointment with a dermatologist (I was referred to a dermatologist because of the profession’s specialization in matters related to the epidermis, or skin).

The dermatologist diagnosed my hair loss as telogen effluvium, or excessive hair shedding. She proceeded to describe to me a common cause of telogen effluvium where a major life stressor—say a car accident, pregnancy or even a crash diet—causes the hair follicles to stop growing. It is very similar to what was described to my clinic by another dietician. The dermatologist then sketched out a rough timeline on the paper covering the examination table and here below, I have tried to recreate it.

PKU Hair Loss Telogen effluvium

Click image to enlarge.

To summarize this graphic, the progression of my own hair loss coincided with what is commonly seen in cases of telogen effluvium. The initial shock to the system was my sudden return to the low-protein diet, and as a result, my hair follicles entered a resting phase. Generally speaking, the hair loss becomes noticeable about one to two months after the initial stressor when the new hair growth pushes out the resting hair.

Thankfully, this means that PKU patients who experience hair loss after returning to the PKU diet will eventually grow back their hair. In my case, I can already see “baby hairs” peeking through my hairline. Unfortunately, my dermatologist estimates it will take approximately two years before those baby hairs are long enough to tie back into a ponytail. In the meantime, I’ll embrace the heck out of some hairspray! :-)

–NM

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How to conduct an at-home blood test for PKU

Regularly monitoring blood phenylalanine (phe) levels is a critical element to the treatment of PKU. The frequency of collecting samples will vary depending on age, clinic preference and the PKU patient’s current health status. For example, maternal PKU patients may collect samples as many as twice a week. It is important to discuss with your clinic how often you should send in blood tests, but should you ever need a quick-reference guide for conducting an at-home blood test, here are a few tips.

Organizing PKU Blood Level Supplies

General Tips:

  • In order to reduce the amount of time it takes to perform a blood level, organize supplies in clear containers. This also lets you know when supplies are running low.
  • Fast for at least two hours, no more than six, before taking a blood level.
  • Chose a different puncture site each time in order to avoid scar tissue or oversensitivity to the puncture-area.
  • Fill at least three circles within the filter paper. I will usually fill all five, just to provide my clinic with several specimen options.

Blood Test Prep:

  • Use a heating pad or hand warmer for about 10 minutes to increase blood flow. Running your hand under hot water may also do the trick.
  • Fill out filter paper with your personal information.
  • Gather supplies needed for single-time use.

10 Easy Steps:

  1. Clean fingertip (or heel if performing the test on an infant) with alcohol wipe. If you do not have an alcohol wipe, wash hands with soap and warm water.
  2. Open Band-Aid from its packaging for easy access after test is complete.
  3. Position the lancet on the side of your finger.
  4. Press the lancet firmly on your skin at the puncture site.
  5. Turn the hand over and let a drop of blood form on your fingertip.
  6. Fill filter paper circles with blood by allowing the drop to freely fall onto the paper (without touching) and while being careful not to overlap drops.
  7. Wrap Band-Aid over the puncture-area.
  8. Discard used lancet in a biohazard sharps container. If you do not have a biohazard sharps container, you can also collect used lancets in a Ziploc plastic bag and bring those to your clinic for safe disposal.
  9. Allow the filter paper to dry overnight, although if you are under a deadline, 2-3 hours will suffice.
  10. Seal the filter paper in an envelope and mail to your clinic (don’t forget the stamp).

For other references and tips for performing at-home blood tests, the National PKU Alliance’s PKU Binder has an entire section focused on Monitoring Blood Phenylalanine Levels and BioMarin has 12-page, electronic brochure describing How to Take Your Blood Phe Levels at Home.

–NM

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Losing it: Both literally and figuratively over PKU and hair loss

PKU diet, PKU hair loss, hair loss, PKU loss of hairLet’s face it. Losing your hair in your early 30s—for whatever reason—is a scary experience. When mine started falling out in large quantities about two months ago, the coincidental timing with my return to the low-protein PKU diet did not go unnoticed. And while I’d rather deal with this humbling experience in private, I felt this subject warranted some attention especially since I’ve only been able to find bits and pieces of anecdotal evidence of the connection between PKU and hair loss.

So let’s start with what are some common reasons for hair loss:

  • Protein deficiencies
  • Deficiencies in vitamins (e.g. B and C), micro-nutrients (e.g. selenium and iron) and fatty acids
  • Imbalance involving thyroid
  • Autoimmune disease
  • Poor blood flow or poor circulation to the scalp
  • Fluctuating hormones
  • Stress

Here’s what you can do if you determine that one or more of these may be causing your hair loss:

  • Protein deficiencies—As was cited in this 2007 article from National PKU News, if a PKU patient is found to be protein deficient, simply increasing the amount of formula consumed each day could help. Speak with your PKU clinic and ask them to run an albumin blood test to determine if you are protein deficient.
  • Vitamin, micro-nutrient and fatty acid deficiencies—Because the PKU diet is so restrictive, vitamin, micro-nutrient and fatty acid deficiencies are likely culprits. A 2010 article from Karger Publishers titled Nutritional Management of Phenylketonuria notes that “Some AA [amino acid] products are devoid of vitamin and mineral supplements to improve taste and acceptability with the assumption that separate vitamin and mineral supplements will be taken each day,” (p. 62). The article goes on to note that the PKU diet tends to contain more carbohydrates and less fatty acids. To help counteract these deficiencies, you may want to take a daily multivitamin and make an effort to consume more vegetable oils that are rich in linolenic acid such as canola or soybean oil.
  • Autoimmune disease, thyroid, poor blood flow and fluctuating hormones–These conditions may indicate that something is wrong independent from the PKU diet; however, it is not impossible for PKU patients returning to the diet to also experience one or more of these. For example, maternal PKU patients may experience “wonky” hormones during and after pregnancy. In any case, these conditions may require a specialist consultation outside of your PKU clinic.

Through the process of elimination, I’ve been able to rule out most of these in my case. Unfortunately, stress—the last reason cited above—is difficult to manage on the low-protein diet. In this case, there are two types of stress worth distinguishing:

1.)    The mental stress it takes to deal with the complexity of the diet, accessibility issues and societal peer pressure

AND

2.)    The physical stress or toll that it takes on the human body when a person returns to the PKU diet

According to a registered dietician my clinic consulted with, hair loss from the sudden shock of returning to diet (which in my case was “cold turkey”), causes a large percentage of the hair follicles to enter into a resting or dormant phase. The patient doesn’t experience hair loss at that moment, but rather when the hair goes from the sleeping stage back into the growing phase, the new hair comes up and pushes old hair out. So in effect, the hair loss I am seeing now actually happened months ago, presumably when I returned to diet in January of this year.

This theory about the stress a body endures after returning to the PKU diet is simply that…a theory. There is little to no research confirming this theory however plausible it may seem. PKU medical professionals may chose to ignore the matter altogether on the premise that they are there to treat the diet and nothing else. This narrow approach to PKU medical treatment is concerning though, especially when you consider that hair loss may become one of the most difficult barriers to dietary adherence. At least it has been for me. In the interim, until more is known about how to treat or avoid PKU-related hair loss, this scenario may also be another “case-in-point” for the need to supplement PKU dietary care with mental health support.

–NM

Be sure to check out the follow-up post on PKU-related hair loss: Hair loss experienced by PKU patients returning to the low-protein diet is temporary.

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Filed under Maternal PKU, Research

What I learned about PKU from 8 million books

Using digitized books to look at PKU trendsThis post is an adaptation of the “TED Talk,” or a video lecture, that was presented by Harvard University’s Erez Lieberman Aiden and Jean-Baptiste Michel in September 2011 called “What we learned from 5 million books.” Essentially, the two researchers created a tool called the Ngram Viewer, which allowed them to search the millions of books that Google has scanned and made publicly available. The large volume of text—which spans centuries and now includes more than 8 million books and approximately a half trillion words—can provide insights into our world, our history and emerging trends simply based on the popularity of certain words or phrases.

Naturally, I wondered what this nifty tool could tell me about the history of PKU and how its treatment has evolved over the years. Before experimenting, I had to narrow the dates in which I would conduct my search. Google’s digitized books include publications between the years 1800 and 2000. For the purpose of investigating PKU, I selected 1930-2000. To understand why, here’s a brief look at PKU chronology:

  • 1934 – PKU discovered by Norwegian physician Dr. Ashbijorn Folling
  • 1953 – Researchers found that a phenylalanine restricted diet helped to treat PKU patients
  • 1963 – Guthrie Method developed (Bacterial Inhibition Assay)
  • 1965 – Newborn screening initiated in the U.S.
  • 1980s – The gene responsible for phenylalanine hydoxylase production was isolated and since that time over 500 mutations in the gene have been identified

And here are some insights that I gathered:

We can visually see how PKU has prepared the way for newborn screening

Google Ngram, How PKU has prepared the way for newborn screening

Click on graph to see a larger view.

Metabolic disorders were in the English vernacular long before PKU or newborn screening. But we can tell the results of this search correlate with the chronology of PKU. The PKU acronym appears as early as the 1930s—when Folling discovered PKU—but it does not pick up in frequency until the Guthrie test was created in the 1960s. Almost immediately or soon thereafter, the concept of newborn screening takes off. We now know that the Guthrie test, which was originally developed to screen for PKU at birth, has led to newborn screening tests for more than 40 developmental, genetic and metabolic disorders.

PKU is most commonly described as a disease

Google Ngram, PKU is most commonly described as a disease

Click on graph to see a larger view.

One of the cool features of the Google Ngram Viewer is that you can use the characters “=>” to determine what words are used to modify other words or phrases. For this particular search, I wanted to see what adjectives were used to describe PKU. Was it disease, disorder or syndrome? As you can see here, disease is the most common descriptor for PKU while syndrome is the least frequently used term. Interestingly, disease is also the first descriptor we see in the literature—it appears that old habits are hard to break!

The practice of counting phe has overtaken the practice of counting grams of protein

Google Ngram, Counting phe has overtaken counting grams of protein

Click on graph to see a larger view.

When I was on the PKU diet growing up in Pittsburgh, Penn., my mother counted phe exchanges. When I first considered a return-to-diet not too long ago, I was advised to count grams of protein. However, after speaking to some other women with PKU, I’ve learned that counting milligrams of phe is a more precise way to track protein intake, especially when considering a PKU pregnancy. Given that experience, I wanted to see what published works in the Google library might suggest is most commonly cited. Here you can see that while the use of grams of protein started strong in the 1930s, tracking milligrams of phe has slowly gained popularity and eventually taken the lead. Interestingly, phe exchanges are not mentioned at all.

The word diet is still overwhelming used to describe PKU medical care

Google Ngram, The word diet is still overwhelming used to describe PKU medical care

Click on graph to see a larger view.

For my last Ngram PKU search, I decided to compare the phrases PKU diet and PKU treatment. In the past, some PKU patients have been denied access to medical formula and foods because of the misconception that the PKU diet is cosmetic and for losing weight. Despite that barrier to PKU therapies, there has been little effort to change the language by which we describe medical care for PKU. Perhaps if Google expanded the scanned library of books to include the years beyond 2000, we would start to see a reversal in this trend.

To be fair, there are some limitations to conducting this Ngram PKU experiment. PKU literature is mainly published in research journals rather than actual books and more recent developments like the first FDA-approved prescription drug to treat PKU would not be included within this data. Nonetheless, I couldn’t resist having a look to see what kind of insight this tool might provide.

Have you played with Google Labs’ NGram Viewer? What other PKU trends and phrases do you think would be interesting to search for?

–NM

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